Zespół turnera
Objawy

Zespół Turnera, występujący u około 1 na 2500 żywych urodzeń płci żeńskiej, jest spowodowany całkowitym lub częściowym brakiem jednego chromosomu X. Charakterystyczne cechy kliniczne obejmują niski wzrost (średnio 143-147 cm u nieleczonych kobiet), niewydolność jajników prowadzącą do braku dojrzewania płciowego i niepłodności, a także liczne wady sercowo-naczyniowe, takie jak koarktacja aorty i dwupłatkowa zastawka aortalna, występujące u 25-50% pacjentek. Diagnostyka prenatalna opiera się na ultrasonograficznych markerach, takich jak zwiększona przezierność karkowa czy torbielowaty obrzęk szyi. Leczenie hormonem wzrostu może zwiększyć końcowy wzrost o 5-7 cm, a hormonalna terapia zastępcza umożliwia rozwój cech płciowych i normalne życie seksualne. Wady nerek (24-42%) oraz zwiększone ryzyko chorób autoimmunologicznych (np. niedoczynność tarczycy, celiakia) i metabolicznych (otyłość centralna, cukrzyca typu 2) są częstymi powikłaniami.

Charakterystyka Zespołu Turnera

Zespół Turnera to zaburzenie chromosomalne, które dotyka wyłącznie dziewczęta i kobiety, występujące z częstością około 1 na 2500 żywych urodzeń płci żeńskiej. Jest spowodowane całkowitym lub częściowym brakiem jednego z chromosomów X. Objawy i ich nasilenie mogą znacznie się różnić między pacjentkami, a niektóre z nich mogą być widoczne od urodzenia, podczas gdy inne rozwijają się stopniowo w dzieciństwie, okresie dojrzewania lub wczesnej dorosłości.123

Zespół ten charakteryzuje się szeregiem cech fizycznych, rozwojowych i zdrowotnych problemów. Najczęstszymi objawami są niski wzrost oraz niewydolność jajników prowadząca do braku dojrzewania płciowego i niepłodności. Pacjentki z zespołem Turnera mają zwykle prawidłowy poziom inteligencji, ale mogą doświadczać specyficznych trudności w nauce.456

Objawy fizyczne przy urodzeniu i w niemowlęctwie

Zespół Turnera może być zdiagnozowany już w okresie prenatalnym na podstawie nieprawidłowych wyników badania ultrasonograficznego, takich jak zwiększona przezierność karkowa, torbielowaty obrzęk szyi, koarktacja aorty, wady serca lewej strony, brachycefalia, nerka podkowiasta, wielowodzie, małowodzie lub nieimmunologiczny obrzęk płodu.78

U noworodków i niemowląt z zespołem Turnera mogą wystąpić następujące objawy:

  • Obrzęk limfatyczny dłoni i stóp91011
  • Szeroka lub wyglądająca na „płetwiastą” szyja z nadmiarem skóry1213
  • Nisko osadzone uszy1415
  • Szeroka klatka piersiowa z szeroko rozstawionymi brodawkami sutkowymi1617
  • Wysokie, wąskie podniebienie1819
  • Ramiona skierowane na zewnątrz w łokciach (cubitus valgus)2021
  • Wąskie i zawinięte do góry paznokcie u rąk i nóg2223
  • Nieznacznie mniejszy wzrost przy urodzeniu2425
  • Wady serca2627
  • Niska linia włosów na karku2829
  • Cofająca się lub mała żuchwa3031
  • Krótkie palce u rąk i nóg3233
  • Problemy z karmieniem3435

Niski wzrost i zaburzenia wzrastania

Najbardziej charakterystycznym objawem zespołu Turnera jest niski wzrost, który staje się zauważalny około 5 roku życia. U dziewcząt z zespołem Turnera szybkość wzrastania jest zwykle nieco wolniejsza w dzieciństwie, a w okresie dojrzewania praktycznie nie występuje typowy skok wzrostowy.363738

Charakterystyka wzrastania obejmuje:

  • Normalny wzrost w pierwszych 3 latach życia, a następnie spowolnienie wzrastania3940
  • Brak skoku wzrostowego w okresie dojrzewania4142
  • Średni wzrost dorosłej kobiety z nieleczonym zespołem Turnera wynosi około 143-147 cm (około 4 stopy i 7 cali), czyli około 20 cm mniej niż średni wzrost kobiet w populacji ogólnej434445

Leczenie hormonem wzrostu może poprawić końcowy wzrost o około 5-7 cm, szczególnie jeśli zostanie rozpoczęte odpowiednio wcześnie.4647

Dysfunkcja jajników i zaburzenia dojrzewania płciowego

Drugim głównym objawem zespołu Turnera jest niewydolność jajników, która prowadzi do opóźnionego lub niepełnego dojrzewania płciowego oraz niepłodności. Około 90% dziewcząt z zespołem Turnera ma niewystarczającą produkcję hormonów płciowych z powodu niewłaściwie rozwiniętych jajników (dysgenezja gonad).484950

Objawy związane z dysfunkcją jajników obejmują:

  • Brak lub niepełny rozwój cech płciowych wtórnych, takich jak piersi, owłosienie łonowe i pachowe5152
  • Brak miesiączki (pierwotny brak miesiączki) lub wczesne zakończenie cykli miesiączkowych5354
  • Niepłodność – większość kobiet z zespołem Turnera nie jest w stanie zajść w ciążę bez leczenia wspomagającego płodność5556

Mimo problemów z jajnikami, macica i pochwa rozwijają się prawidłowo, co umożliwia normalne życie seksualne po zastosowaniu hormonalnej terapii zastępczej.575859

Około 30% dziewcząt z zespołem Turnera wykazuje pewien stopień spontanicznego rozwoju płciowego, a około 5-10% ma naturalne miesiączki. Bardzo niewielki odsetek kobiet z zespołem Turnera może naturalnie zajść w ciążę.606162

Problemy sercowo-naczyniowe

Wady układu sercowo-naczyniowego są jednymi z najpoważniejszych problemów zdrowotnych związanych z zespołem Turnera i główną przyczyną zwiększonej śmiertelności w tej grupie pacjentek. Około 25-50% pacjentek z zespołem Turnera rodzi się z wadami serca lub dużych naczyń krwionośnych.636465

Najczęstsze wady sercowo-naczyniowe obejmują:

  • Koarktację aorty (zwężenie głównej tętnicy opuszczającej serce)6667
  • Dwupłatkową zastawkę aortalną6869
  • Poszerzenie (dylatacja) aorty7071
  • Zwężenie zastawki aortalnej7273
  • Nieprawidłowy spływ żył płucnych7475

Tętniaki aorty i rozwarstwienie aorty to rzadkie, ale zagrażające życiu powikłania zespołu Turnera, które mogą wystąpić w życiu dorosłym. Pacjentki z zespołem Turnera wymagają regularnych badań kardiologicznych przez całe życie.7677

Problemy nerkowe i układowe

Anomalie nerek są częste u pacjentek z zespołem Turnera i występują u około 24-42% przypadków. Obejmują one:

  • Nerkę podkowiastą7879
  • Zdwojenie układu zbiorczego80
  • Nieprawidłowe położenie nerek81

Te anomalie mogą prowadzić do zwiększonego ryzyka nawracających zakażeń układu moczowego, nadciśnienia tętniczego i innych problemów nerkowych.8283

Choroby autoimmunologiczne i zaburzenia metaboliczne

Pacjentki z zespołem Turnera mają 2-3 razy wyższe ryzyko rozwoju chorób autoimmunologicznych w porównaniu do populacji ogólnej. Najczęstsze z nich to:8485

Pacjentki z zespołem Turnera mają również zwiększone ryzyko zaburzeń metabolicznych, takich jak:94

  • Otyłość centralna9596
  • Insulinooporność97
  • Cukrzyca typu 29899
  • Dyslipidemia100101
  • Nadciśnienie tętnicze102103

Problemy kostne i szkieletowe

Kobiety z zespołem Turnera często mają problemy z układem kostnym, takie jak:

  • Osteoporoza – z powodu niskiego poziomu estrogenów104105
  • Skolioza (występuje u około 10% nastolatek z zespołem Turnera)106107
  • Krótka czwarta kość śródręcza lub śródstopia108
  • Deformacja Madelunga przedramienia i nadgarstka109110
  • Koślawość łokciowa (cubitus valgus)111112

Problemy neurologiczne i poznawcze

Pacjentki z zespołem Turnera zwykle mają normalny poziom inteligencji, ale mogą mieć specyficzne deficyty neurokognitywne i trudności w nauce:113114

  • Problemy z organizacją przestrzenno-wizualną115116
  • Trudności z zadaniami matematycznymi117118
  • Problemy z pamięcią, szczególnie niewerbalną119120
  • Zaburzenia uwagi121122

U dziewcząt z zespołem Turnera można obserwować charakterystyczny wzorzec zachowania w dzieciństwie, obejmujący:123

  • Nadmierną aktywność fizyczną124125
  • Działanie impulsywne, łamanie zasad lub brak poczucia niebezpieczeństwa126
  • Krótki czas koncentracji i łatwe rozpraszanie się127128

Problemy z uwagą i nadaktywnością zazwyczaj są najbardziej widoczne w wieku szkolnym i często zmniejszają się w okresie dojrzewania, choć trudności z koncentracją mogą utrzymywać się dłużej.129130

Problemy ze słuchem i wzrokiem

Pacjentki z zespołem Turnera mają zwiększone ryzyko problemów ze słuchem i wzrokiem:

  • Nawracające zapalenia ucha środkowego prowadzące do przewodzeniowego ubytku słuchu131132
  • Czuciowo-nerwowy ubytek słuchu, który może nasilać się z wiekiem133134
  • Opadanie powiek (ptoza)135136
  • Zez (strabizm)137138
  • Niedowidzenie (amblyopia)139
  • Zaćma140
  • Ślepota barw czerwono-zielona141

Progresja zespołu Turnera w różnych okresach życia

Objawy zespołu Turnera mogą zmieniać się wraz z wiekiem i różnić się między pacjentkami. Charakterystyczne cechy i problemy zdrowotne w różnych okresach życia obejmują:

Objawy w okresie prenatalnym

  • Nieprawidłowości w badaniu USG, takie jak zwiększona przezierność karkowa142143
  • Torbielowaty obrzęk szyi144145
  • Wady serca146147
  • Obrzęk płodu148

Objawy u niemowląt

  • Obrzęk limfatyczny dłoni i stóp149150
  • Dodatkowe fałdy skórne na szyi151152
  • Wady serca153154
  • Problemy z karmieniem155

Objawy u dzieci

  • Spowolnienie tempa wzrastania (najczęściej zauważalne po 3 roku życia)156157
  • Niski wzrost w stosunku do rówieśników158159
  • Nawracające infekcje ucha środkowego160161
  • Problemy ze słuchem162163
  • Trudności w nauce164165
  • Nadmierna aktywność fizyczna, impulsywność, krótki czas koncentracji166167

Objawy u nastolatek

  • Brak skoku wzrostowego w okresie dojrzewania168169
  • Opóźnione lub niepełne dojrzewanie płciowe170171
  • Brak lub niepełny rozwój piersi172173
  • Brak miesiączki174175
  • Problemy społeczne176177

Objawy u dorosłych kobiet

  • Niski wzrost (średnio około 143-147 cm)178179
  • Nieprawidłowości cyklu miesiączkowego180181
  • Niepłodność182183
  • Problemy ze słuchem184185
  • Problemy z sercem, w tym tętniaki i rozwarstwienie aorty186187
  • Nadciśnienie tętnicze188189
  • Niedoczynność tarczycy190191
  • Cukrzyca typu 2192193
  • Osteoporoza194195

Oczekiwana długość życia u pacjentek z zespołem Turnera jest nieco krótsza niż w populacji ogólnej, głównie z powodu zwiększonego ryzyka chorób sercowo-naczyniowych. Regularne badania kontrolne i odpowiednie leczenie mogą jednak znacznie poprawić rokowanie i jakość życia.196197198

Mozaicyzm w zespole Turnera

Mozaikowy zespół Turnera występuje, gdy brak chromosomu X dotyczy tylko części komórek. Pacjentki z mozaikowym zespołem Turnera zwykle mają łagodniejsze objawy niż te z pełnym zespołem Turnera.199200201

Charakterystyka mozaikowego zespołu Turnera obejmuje:

  • Łagodniejsze objawy fizyczne202203
  • Niektóre pacjentki mogą nie zdawać sobie sprawy z choroby aż do okresu dojrzewania lub później204205
  • Możliwe spontaniczne wystąpienie dojrzewania płciowego206
  • Lepsze rokowanie w porównaniu do pełnego zespołu Turnera207208

Pacjentki z mozaikowym zespołem Turnera również wymagają regularnych badań kontrolnych, ponieważ nadal mogą mieć zwiększone ryzyko powikłań zdrowotnych związanych z zespołem Turnera, choć zwykle o mniejszym nasileniu.209

Kolejne rozdziały

Zapraszamy do dalszego czytania naszego leksykonu.

Wybierz kolejny rozdział z menu poniżej, aby otworzyć nową podstronę kompedium wiedzy i uzyskać szczegółowe informację o leku, substancji lub chorobie.

  1. 09.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Turner syndrome: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/turner-syndrome/
    Turner syndrome is a chromosomal condition that affects development. Females typically have two X chromosomes, but in individuals with Turner syndrome, one copy of the X chromosome is missing or altered. […] The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. Reduced functioning of the ovaries, the female reproductive organs that produce egg cells (oocytes) and female sex hormones, is also very common. The ovaries develop normally at first, but egg cells usually die prematurely and most ovarian tissue breaks down before birth. […] Many females with Turner syndrome do not undergo puberty unless they receive hormone therapy, and most are unable to become pregnant naturally. A small percentage of people with Turner syndrome retain normal ovarian function through young adulthood.
  • #2 Turner Syndrome: What It Is, Causes, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15200-turner-syndrome
    Turner syndrome leads to a variety of features and symptoms and affects each person differently. But short stature and reduced ovary functioning (primary ovarian insufficiency) are the two most common features. […] Common features of Turner syndrome include short stature, differences in sexual development and certain physical traits. […] The main feature of Turner syndrome is short stature. Almost all people with TS: Grow more slowly than their peers during childhood and adolescence. Short stature usually becomes apparent by age 5. […] Another common feature is differences in sexual development. Most people with TS: Typically dont go through puberty unless they get hormone therapy in late childhood and early adolescence. May not experience breast development without hormone therapy. May not have menstrual periods (amenorrhea). Have smaller-than-expected ovaries that may only function for a few years or not at all (primary ovarian insufficiency or POI). Have low levels of sex hormones (like estrogen). Have infertility.
  • #3 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome is the most common sex chromosomal abnormality found in females. […] This activity describes the clinical manifestations, complications, evaluation, and management of Turner syndrome and highlights the role of the interprofessional team approach in managing patients with this condition. […] Turner syndrome can be identified prenatally with abnormal ultrasound findings of increased nuchal translucency, nuchal cystic hygroma, coarctation of the aorta/left-sided cardiac anomalies, brachycephaly, horseshoe kidney, polyhydramnios, oligohydramnios or non-immune fetal hydrops. In the female newborn, Turner syndrome can present with congenital lymphedema of the hands and feet, webbed neck, nail dysplasia, narrow and high-arched palate, and short fourth metacarpals or metatarsals. As they grow up, the girls develop short stature, shield chest with widely spaced nipples, webbed neck, low hairline at the base of the neck, cubitus valgus, and Madelung deformity of the forearm and the wrist.
  • #4 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #5 Turner Syndrome: What It Is, Causes, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15200-turner-syndrome
    Turner syndrome presents in many ways. It can cause several different characteristics or features as well as certain health conditions, which can vary in severity. Depending on the type of TS, signs of the syndrome may be apparent: Before birth. Shortly after birth. In early childhood. In early adolescence. In adulthood. […] People with Turner syndrome are at an increased risk of also having certain health conditions. But not everyone with TS will develop them. […] The life expectancy for people with Turner syndrome might be slightly shorter. But by testing for and treating the health conditions that can come with TS, people with TS can expect to have a typical lifespan.
  • #6
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    Almost all girls with Turner syndrome will grow up to be shorter than average, with underdeveloped ovaries. […] Girls with Turner syndrome also have distinctive features and associated health conditions, some of which may be apparent from birth. […] They may be born with swollen hands and feet, caused by a build-up of excess fluid (lymphoedema) in the surrounding tissues, but this usually clears soon after birth. […] At puberty, usually between 8 and 14 years, a girl with Turner syndrome will not have the normal growth spurt, even with female oestrogen hormone replacement therapy (HRT). […] Girls with Turner syndrome are typically short in relation to the height of their parents. On average, adult women with untreated Turner syndrome are 20cm shorter than adult women without the syndrome.
  • #7 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome is the most common sex chromosomal abnormality found in females. […] This activity describes the clinical manifestations, complications, evaluation, and management of Turner syndrome and highlights the role of the interprofessional team approach in managing patients with this condition. […] Turner syndrome can be identified prenatally with abnormal ultrasound findings of increased nuchal translucency, nuchal cystic hygroma, coarctation of the aorta/left-sided cardiac anomalies, brachycephaly, horseshoe kidney, polyhydramnios, oligohydramnios or non-immune fetal hydrops. In the female newborn, Turner syndrome can present with congenital lymphedema of the hands and feet, webbed neck, nail dysplasia, narrow and high-arched palate, and short fourth metacarpals or metatarsals. As they grow up, the girls develop short stature, shield chest with widely spaced nipples, webbed neck, low hairline at the base of the neck, cubitus valgus, and Madelung deformity of the forearm and the wrist.
  • #8 Turner Syndrome: Symptoms, Causes, Types, and Treatment | Metropolis Healthcare
    https://www.metropolisindia.com/blog/preventive-healthcare/understanding-turner-syndrome-symptoms-causes-types-and-treatment
    Turner syndrome is a genetic disorder that affects females, which is characterized by partial or completely absence of an X chromosome. Girls with Turner syndrome often exhibit short physiques, delayed puberty and infertility. Turner syndrome can also cause heart defects, learning disabilities, and other health problems. Diagnosis usually occurs in early childhood, allowing early intervention to manage Turner syndrome symptoms and improve quality of life for those affected. […] Identifying Turner syndrome symptoms can sometimes be challenging because they can range from subtle to significant. In some girls, physical characteristics appear early, while in others they develop slowly over time. Let’s take a closer look at some common Turner syndrome symptoms at different stages of life: […] Before Birth: Turner syndrome can be suspected during prenatal stages based on prenatal ultrasound. This could reveal abnormalities like large fluid collections at the back of the neck, heart defects, and abnormal kidneys.
  • #9 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #10 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome is the most common sex chromosomal abnormality found in females. […] This activity describes the clinical manifestations, complications, evaluation, and management of Turner syndrome and highlights the role of the interprofessional team approach in managing patients with this condition. […] Turner syndrome can be identified prenatally with abnormal ultrasound findings of increased nuchal translucency, nuchal cystic hygroma, coarctation of the aorta/left-sided cardiac anomalies, brachycephaly, horseshoe kidney, polyhydramnios, oligohydramnios or non-immune fetal hydrops. In the female newborn, Turner syndrome can present with congenital lymphedema of the hands and feet, webbed neck, nail dysplasia, narrow and high-arched palate, and short fourth metacarpals or metatarsals. As they grow up, the girls develop short stature, shield chest with widely spaced nipples, webbed neck, low hairline at the base of the neck, cubitus valgus, and Madelung deformity of the forearm and the wrist.
  • #11 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema. In infants, the combination of dysplastic or hypoplastic nails and lymphedema gives a characteristic sausage-like appearance to the fingers and toes. Infants also have a higher incidence of congenital hip dislocation. […] During childhood, girls with Turner syndrome usually present with short stature. In older adolescents and adults, presenting symptoms usually involve issues of puberty and fertility as well as short stature. […] Growth rate in childhood is slightly slower; before age 11 years, some girls have height and growth rates that are well within the normal range, but heights are typically below the 50th percentile. The adolescent growth spurt essentially is absent. […] Breast development is absent when ovarian failure occurs before puberty. Primary or secondary amenorrhea occurs with ovarian failure.
  • #12 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #13 Turner syndrome: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/turner-syndrome/
    About 30 percent of individuals with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One-third to one-half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery that leaves the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta to the heart (the aortic valve). Complications associated with these heart defects can be life-threatening. […] Most people with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.
  • #14 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #15 Pediatric Turner Syndrome – Conditions and Treatments | Children’s National Hospital
    https://www.childrensnational.org/get-care/health-library/turner-syndrome
    Turner syndrome (TS) is a genetic disorder that occurs in girls. […] Girls with Turner Syndrome generally have normal intelligence. But they are shorter than most girls. They dont go through normal puberty as they grow into adulthood. And they may also have heart, thyroid or kidney problems. […] Girls with TS are shorter than most girls. They dont go through normal puberty as they grow into adulthood. They may also have other health problems, such as heart or kidney problems. The seriousness of these problems varies from girl to girl. […] Girls with Turner Syndrome often have: Puffy hands and feet at birth, Wide neck with folds of skin down the sides of neck (webbed neck), Short height, A low hairline at the back of the neck, Feeding problems as a baby, Small differences in the shape and position of the ears, Broad chest with widely spaced nipples, More small brown moles (nevi) on the skin than normal, Deep-set nails, Small jaw, Narrow top of the inside of the mouth, Skeletal problems, Eye problems needing glasses.
  • #16 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #17 Turner syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Turner_syndrome
    In addition to short stature, Turner syndrome is associated with a number of characteristic physical features. These include a short, webbed neck, low hairline, small chin and lower jaw, arched palate, and broad chest with widely-spaced nipples. […] Approximately half of individuals with Turner syndrome have congenital heart defects. […] Turner syndrome is associated with a broad variety of health considerations, such as liver and kidney issues, obesity, diabetes, and hypertension. […] Women with Turner syndrome are two to three times as likely to develop autoimmune disorders as the general population. […] Puberty is delayed or absent in Turner syndrome. […] Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency (POI) and infertility.
  • #18 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #19 Turner Syndrome | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/turner-syndrome
    Turner syndrome can cause a wide variety of symptoms that affect a range of organs, including the heart, eyes, ears, bones, and kidneys. Most girls with Turner syndrome are born with poorly formed or missing ovaries, which can result in a failure to reach puberty and infertility. Many are also short in stature. […] The symptoms of Turner syndrome can vary from girl to girl, depending on how much of the X chromosome is missing and which part is missing. […] The most obvious symptom of Turner syndrome is a shorter-than-normal height. Girls with Turner syndrome usually have a decrease in growth percentiles starting between ages 4 and 6. […] Other symptoms of Turner syndrome can include: Feeding problems during infancy, Puffy hands and feet at birth, as well as a wideness and „webbing” of the neck, A low hairline at the back of the neck, Minor differences in the shape and position of ears, A broad chest with widely spaced nipples, An increased number of small brown moles (called nevi) on the skin, Frequent ear infections, Sparse pubic hair, Incomplete breast development, Inability to menstruate, Vaginal dryness, Skeletal problems, Problems with spatial perception, non-verbal memory and attention.
  • #20 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #21 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #22 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #23 Turner Syndrome | X Chromosome | MedlinePlus
    https://medlineplus.gov/turnersyndrome.html
    Turner syndrome can cause many different symptoms. The symptoms may be mild for some people. But for others, Turner syndrome can cause serious health problems. […] Some of the symptoms of Turner syndrome affect a person’s appearance. Most people with Turner syndrome are shorter than average. They may also have physical features such as: A neck that is short and has extra skin (a „webbed” neck), A low hairline in the back, Low-set ears, Swollen hands and feet. […] People with Turner syndrome may be born with heart and kidney defects. They usually don’t have typical sexual development and are infertile. They are also at risk for other health problems such as high blood pressure, type 2 diabetes, osteoporosis, and thyroid problems.
  • #24 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #25 Turner syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Turner_syndrome
    Turner syndrome is associated with a number of physical features, including short stature, heart defects, webbed neck, micrognathia, amenorrhoea, and infertility. […] Signs and symptoms vary among those affected but often include additional skin folds on the neck, arched palate, low-set ears, low hairline at the nape of the neck, short stature, and lymphedema of the hands and feet. […] Heart defects, Type II diabetes, and hypothyroidism occur in the disorder more frequently than average. […] Turner syndrome is associated with short stature. The mean adult height of women with Turner syndrome without growth hormone therapy is around 20 cm (8 in) shorter than the mean of women in the general population. […] Growth delay in Turner syndrome does not begin at birth; most neonates with the condition have a birth weight in the lower end of the normal range. Height begins to lag in toddlerhood, with a delayed growth velocity becoming apparent as early as 18 months. Marked short stature becomes obvious in mid-childhood.
  • #26 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #27 Turner syndrome: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/turner-syndrome/
    About 30 percent of individuals with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One-third to one-half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery that leaves the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta to the heart (the aortic valve). Complications associated with these heart defects can be life-threatening. […] Most people with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.
  • #28 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #29 Turner syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Turner_syndrome
    In addition to short stature, Turner syndrome is associated with a number of characteristic physical features. These include a short, webbed neck, low hairline, small chin and lower jaw, arched palate, and broad chest with widely-spaced nipples. […] Approximately half of individuals with Turner syndrome have congenital heart defects. […] Turner syndrome is associated with a broad variety of health considerations, such as liver and kidney issues, obesity, diabetes, and hypertension. […] Women with Turner syndrome are two to three times as likely to develop autoimmune disorders as the general population. […] Puberty is delayed or absent in Turner syndrome. […] Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency (POI) and infertility.
  • #30 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #31 Turner syndrome: Symptoms, causes, and treatment
    https://www.medicalnewstoday.com/articles/176083
    Girls are often short in stature, and they may have some emotional and learning difficulties, but most will have normal intelligence. […] The signs and symptoms of Turner syndrome vary considerably. They may even appear before birth. […] Signs and symptoms before birth include lymphedema. Lymphedema happens when fluid is not properly transported around the organs of the fetal body, and excess fluid leaks into the surrounding tissue, resulting in swelling. […] Newborns with TS may have swollen hands and feet. […] At birth or during infancy, there may be: a broad chest with widely-spaced nipples, cubitus valgus, where arms turn outwards at the elbows, drooping eyelids, fingernails that turn upward, a high, narrow palate, or roof of the mouth, low hairline at the back of the head, low-set ears, small and receding lower jaw, short hands, slower or delayed growth, smaller height and weight at birth, swelling of the hands and feet, wide neck with extra folds of skin, sometimes described as web-like.
  • #32 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #33 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #34 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #35 Turner syndrome: Symptoms, causes, and treatment
    https://www.medicalnewstoday.com/articles/176083
    Girls are often short in stature, and they may have some emotional and learning difficulties, but most will have normal intelligence. […] The signs and symptoms of Turner syndrome vary considerably. They may even appear before birth. […] Signs and symptoms before birth include lymphedema. Lymphedema happens when fluid is not properly transported around the organs of the fetal body, and excess fluid leaks into the surrounding tissue, resulting in swelling. […] Newborns with TS may have swollen hands and feet. […] At birth or during infancy, there may be: a broad chest with widely-spaced nipples, cubitus valgus, where arms turn outwards at the elbows, drooping eyelids, fingernails that turn upward, a high, narrow palate, or roof of the mouth, low hairline at the back of the head, low-set ears, small and receding lower jaw, short hands, slower or delayed growth, smaller height and weight at birth, swelling of the hands and feet, wide neck with extra folds of skin, sometimes described as web-like.
  • #36 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include: Slowed growth, No growth spurts at expected times in childhood, Adult height significantly less than might be expected for a female member of the family, Failure to begin sexual changes expected during puberty, Sexual development that „stalls” during teenage years, Early end to menstrual cycles not due to pregnancy, For most females with Turner syndrome, inability to conceive a child without fertility treatment.
  • #37 Turner Syndrome: What It Is, Causes, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15200-turner-syndrome
    Turner syndrome leads to a variety of features and symptoms and affects each person differently. But short stature and reduced ovary functioning (primary ovarian insufficiency) are the two most common features. […] Common features of Turner syndrome include short stature, differences in sexual development and certain physical traits. […] The main feature of Turner syndrome is short stature. Almost all people with TS: Grow more slowly than their peers during childhood and adolescence. Short stature usually becomes apparent by age 5. […] Another common feature is differences in sexual development. Most people with TS: Typically dont go through puberty unless they get hormone therapy in late childhood and early adolescence. May not experience breast development without hormone therapy. May not have menstrual periods (amenorrhea). Have smaller-than-expected ovaries that may only function for a few years or not at all (primary ovarian insufficiency or POI). Have low levels of sex hormones (like estrogen). Have infertility.
  • #38 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema. In infants, the combination of dysplastic or hypoplastic nails and lymphedema gives a characteristic sausage-like appearance to the fingers and toes. Infants also have a higher incidence of congenital hip dislocation. […] During childhood, girls with Turner syndrome usually present with short stature. In older adolescents and adults, presenting symptoms usually involve issues of puberty and fertility as well as short stature. […] Growth rate in childhood is slightly slower; before age 11 years, some girls have height and growth rates that are well within the normal range, but heights are typically below the 50th percentile. The adolescent growth spurt essentially is absent. […] Breast development is absent when ovarian failure occurs before puberty. Primary or secondary amenorrhea occurs with ovarian failure.
  • #39 About Turner Syndrome
    http://www.genome.gov/Genetic-Disorders/Turner-Syndrome
    Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems. […] Girls who have Turner syndrome are shorter than average. They often have normal height for the first three years of life, but then have a slow growth rate. At puberty they do not have the usual growth spurt. Non-functioning ovaries are another symptom of Turner syndrome. Normally a girl’s ovaries begin to produce sex hormones (estrogen and progesterone) at puberty. This does not happen in most girls who have Turner syndrome. They do not start their periods or develop breasts without hormone treatment at the age of puberty. Even though many women who have Turner have non-functioning ovaries and are infertile, their vagina and womb are totally normal.
  • #40 About Turner Syndrome
    https://www.genome.gov/Genetic-Disorders/Turner-Syndrome
    Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems. […] Girls who have Turner syndrome are shorter than average. They often have normal height for the first three years of life, but then have a slow growth rate. At puberty they do not have the usual growth spurt. Non-functioning ovaries are another symptom of Turner syndrome. Normally a girl’s ovaries begin to produce sex hormones (estrogen and progesterone) at puberty. This does not happen in most girls who have Turner syndrome. They do not start their periods or develop breasts without hormone treatment at the age of puberty.
  • #41 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include: Slowed growth, No growth spurts at expected times in childhood, Adult height significantly less than might be expected for a female member of the family, Failure to begin sexual changes expected during puberty, Sexual development that „stalls” during teenage years, Early end to menstrual cycles not due to pregnancy, For most females with Turner syndrome, inability to conceive a child without fertility treatment.
  • #42
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    Most girls with Turner syndrome do not produce enough of these sex hormones, which means: they may not begin sexual development or fully develop breasts without female hormone replacement therapy (HRT); they may begin sexual development but not complete it; they may not start their monthly periods naturally; it’s likely they’ll need help to have a baby. […] Even though many women with Turner syndrome have undeveloped ovaries and are infertile, their vagina and womb develop normally. […] Most girls need hormone replacement therapy (HRT) with oestrogen from around 10 to 12 years of age to begin breast development, and about 3 years later with added progesterone to bring on monthly periods. […] A minority of girls with Turner syndrome experience some physical changes naturally during puberty, but only a very small number become pregnant naturally.
  • #43 Turner’s syndrome | Better Health Channel
    https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/turners-syndrome
    Turners syndrome is a random genetic disorder that affects females. The main characteristics include short stature and infertility. The most significant features of Turners syndrome include short stature average adult height is 143 cm (4 8), infertility due to underdeveloped ovaries, congenital heart defects in about 50 per cent of affected women, spatial awareness issues problems with tasks such as maths, absence of menstruation (amenorrhoea), and hearing problems. Turners syndrome is a lifelong condition. However, many treatment options are available to help affected girls and women reach their potential in all aspects of life. Treatment aims to correct any physical defects and help bring about puberty. […] Infertility is caused by the failure of the ovaries to grow properly they then undergo a premature menopause. There may be some eggs present at birth, but these degenerate soon after. Only around five to 10 per cent of girls with Turners syndrome menstruate naturally and the rest need hormone replacement therapy.
  • #44 Turner syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Turner_syndrome
    Turner syndrome is associated with a number of physical features, including short stature, heart defects, webbed neck, micrognathia, amenorrhoea, and infertility. […] Signs and symptoms vary among those affected but often include additional skin folds on the neck, arched palate, low-set ears, low hairline at the nape of the neck, short stature, and lymphedema of the hands and feet. […] Heart defects, Type II diabetes, and hypothyroidism occur in the disorder more frequently than average. […] Turner syndrome is associated with short stature. The mean adult height of women with Turner syndrome without growth hormone therapy is around 20 cm (8 in) shorter than the mean of women in the general population. […] Growth delay in Turner syndrome does not begin at birth; most neonates with the condition have a birth weight in the lower end of the normal range. Height begins to lag in toddlerhood, with a delayed growth velocity becoming apparent as early as 18 months. Marked short stature becomes obvious in mid-childhood.
  • #45 Turner syndrome | Endocrine Conditions
    https://www.yourhormones.info/endocrine-conditions/turner-syndrome/
    Turner syndrome is a chromosomal disorder affecting the equivalent of one in 2,500 girls, which may lead to a number of features including short stature, failure to enter puberty and infertility. […] Although many signs and symptoms are described in Turner syndrome, these vary widely between individuals. Often the diagnosis is only made during investigations for short stature or delayed puberty. […] In infancy, girls with Turner syndrome can have puffy hands and feet (lymphoedema). Other features include short webbed neck, low hairline, a high arched palate, widely spaced nipples and a shield-like chest appearance. […] The most serious problems involve the heart, such as narrowing of the main artery from the heart (aorta), known as coarctation, and some heart valve defects. […] Affected girls are on average 20 cm (eight inches) shorter than expected. Small size may be apparent from birth or in the first years of life.
  • #46
    https://111.wales.nhs.uk/encyclopaedia/t/article/turnersyndrome
    Babies with Turner syndrome may grow at a normal rate until they’re 3 years old. After this, their growth slows down. At puberty, usually between 8 and 14 years, a girl with Turner syndrome will not have the normal growth spurt, even with female oestrogen hormone replacement (HRT). Girls with Turner syndrome are typically short in relation to the height of their parents. On average, adult women with untreated Turner syndrome are 20cm (8in) shorter than adult women without the syndrome. Treatment with additional high-dose growth hormone reduces this difference by about 5cm (about 2in) on average. […] Around 90% of girls with Turner syndrome don’t produce enough of these sex hormones, which means they may not begin sexual development or fully develop breasts without female hormone replacement therapy (HRT), they may begin sexual development but not complete it, they may not start their monthly periods naturally, and it’s likely they’ll need help to have a baby. Even though many women with Turner syndrome have undeveloped ovaries and are infertile, their vagina and womb develop normally. This means they’re able to have a normal sex life following treatment with female hormones.
  • #47 Turner Syndrome (for Teens) | Nemours KidsHealth
    https://kidshealth.org/en/teens/turner.html
    Other health problems that may happen with TS include kidney problems, heart problems, high blood pressure, obesity, diabetes mellitus, vision problems, thyroid problems, and abnormal bone development. […] Because TS is a chromosomal disorder, there’s no cure for the condition. But a number of treatments can help: Growth hormone, either alone or with other hormone treatment, may improve growth and will usually increase final adult height often into the normal range if treatment is started early enough. Estrogen replacement therapy helps a girl develop the physical changes of puberty, including breast development and menstrual periods. This treatment usually starts when a girl is about 12 or 13.
  • #48 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include: Slowed growth, No growth spurts at expected times in childhood, Adult height significantly less than might be expected for a female member of the family, Failure to begin sexual changes expected during puberty, Sexual development that „stalls” during teenage years, Early end to menstrual cycles not due to pregnancy, For most females with Turner syndrome, inability to conceive a child without fertility treatment.
  • #49
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    Most girls with Turner syndrome do not produce enough of these sex hormones, which means: they may not begin sexual development or fully develop breasts without female hormone replacement therapy (HRT); they may begin sexual development but not complete it; they may not start their monthly periods naturally; it’s likely they’ll need help to have a baby. […] Even though many women with Turner syndrome have undeveloped ovaries and are infertile, their vagina and womb develop normally. […] Most girls need hormone replacement therapy (HRT) with oestrogen from around 10 to 12 years of age to begin breast development, and about 3 years later with added progesterone to bring on monthly periods. […] A minority of girls with Turner syndrome experience some physical changes naturally during puberty, but only a very small number become pregnant naturally.
  • #50 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    At birth, girls with Turner syndrome may have swollen hands and feet because of lymphedema. In infants, the combination of dysplastic or hypoplastic nails and lymphedema gives a characteristic sausage-like appearance to the fingers and toes. Infants also have a higher incidence of congenital hip dislocation. […] During childhood, girls with Turner syndrome usually present with short stature. In older adolescents and adults, presenting symptoms usually involve issues of puberty and fertility as well as short stature. […] Growth rate in childhood is slightly slower; before age 11 years, some girls have height and growth rates that are well within the normal range, but heights are typically below the 50th percentile. The adolescent growth spurt essentially is absent. […] Breast development is absent when ovarian failure occurs before puberty. Primary or secondary amenorrhea occurs with ovarian failure.
  • #51
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    Most girls with Turner syndrome do not produce enough of these sex hormones, which means: they may not begin sexual development or fully develop breasts without female hormone replacement therapy (HRT); they may begin sexual development but not complete it; they may not start their monthly periods naturally; it’s likely they’ll need help to have a baby. […] Even though many women with Turner syndrome have undeveloped ovaries and are infertile, their vagina and womb develop normally. […] Most girls need hormone replacement therapy (HRT) with oestrogen from around 10 to 12 years of age to begin breast development, and about 3 years later with added progesterone to bring on monthly periods. […] A minority of girls with Turner syndrome experience some physical changes naturally during puberty, but only a very small number become pregnant naturally.
  • #52 Pediatric Turner Syndrome – Conditions and Treatments | Children’s National Hospital
    https://www.childrensnational.org/get-care/health-library/turner-syndrome
    There is no cure for TS. But many of the more serious problems can be treated. For example, growth hormone and androgen therapy can increase the final adult height of a girl. She can also take hormone therapy to develop secondary sex traits, such as breasts, pubic hair and underarm hair. […] Being shorter than normal is the most common feature of TS as a girl grows. The average adult height of a woman with TS is 4 feet, 8 inches. […] Most women with TS are born with poorly formed or missing ovaries. Ovaries make estrogen. Without it, a girl with TS will not develop sexually. The normal signs of puberty dont happen unless the girl is given hormone therapy. This includes breast development, menstrual periods, and growth of pubic hair and hair elsewhere on the body. […] Other common problems with TS affect the heart, kidney, and thyroid. About 1 in 10 girls with TS is born with coarctation of the aorta. This means the main artery that leaves the heart is narrowed.
  • #53 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include: Slowed growth, No growth spurts at expected times in childhood, Adult height significantly less than might be expected for a female member of the family, Failure to begin sexual changes expected during puberty, Sexual development that „stalls” during teenage years, Early end to menstrual cycles not due to pregnancy, For most females with Turner syndrome, inability to conceive a child without fertility treatment.
  • #54 Turner syndrome: Symptoms, causes, and treatment
    https://www.medicalnewstoday.com/articles/176083
    This leads to: no onset of menstrual periods, poorly developed breasts, possible infertility. […] Although a female with TS has non-functioning ovaries and is infertile, her vagina and uterus, or womb, is usually normal, and most females with TS will be able to have a normal sex life. […] Other possible signs and symptoms include: eyes that slant downwards, prominent earlobes, mouth abnormalities that can cause dental problems, narrowing of the aorta, which may result in a heart murmur, hypothyroidism, or an underactive thyroid gland, treatable with thyroxine tablets, hypertension or high blood pressure, osteoporosis, or brittle bones, due to insufficient estrogen, otitis media, middle ear infection, or glue ear, is common among young girls with TS, hearing loss in adulthood may be due to otitis media during childhood, diabetes is more likely in older and overweight females with TS than in other women with similar weight and age, moles may be prevalent on the skin, small spoon-shaped nails, a fourth finger or toe that is shorter than normal.
  • #55 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include: Slowed growth, No growth spurts at expected times in childhood, Adult height significantly less than might be expected for a female member of the family, Failure to begin sexual changes expected during puberty, Sexual development that „stalls” during teenage years, Early end to menstrual cycles not due to pregnancy, For most females with Turner syndrome, inability to conceive a child without fertility treatment.
  • #56 Turner Syndrome: Symptoms, Tests, and Treatment
    https://patient.info/childrens-health/turner-syndrome-leaflet
    For example, about half will have an abnormality with the heart or major blood vessels. Up to 6 in 10 will have an abnormality of the kidneys or urinary tract. […] Almost all girls with Turner syndrome have ovaries that do not work properly. As a result, they may not go through puberty, may have breasts which do not develop properly, and may not ever get a period, and are likely to be infertile. However, up to 3 in 10 girls will have some changes of puberty and 1 in 200 may be able to get pregnant naturally. […] Note: although there are often problems with ovaries, women with Turner syndrome still have a normal vagina and womb and can have a normal sex life. […] When they become adults, most girls with Turner syndrome will be shorter than average and infertile. However, the development of growth hormone treatment has improved the expected adult height for those treated. The most significant risk faced is that of heart and blood vessel problems. But, regular checks and treatment where necessary have reduced the impact of these complications. Overall, life expectancy is only slightly reduced and quality of life is usually normal. Most girls with Turner syndrome have normal intelligence and have the potential to lead happy and full lives.
  • #57
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    Most girls with Turner syndrome do not produce enough of these sex hormones, which means: they may not begin sexual development or fully develop breasts without female hormone replacement therapy (HRT); they may begin sexual development but not complete it; they may not start their monthly periods naturally; it’s likely they’ll need help to have a baby. […] Even though many women with Turner syndrome have undeveloped ovaries and are infertile, their vagina and womb develop normally. […] Most girls need hormone replacement therapy (HRT) with oestrogen from around 10 to 12 years of age to begin breast development, and about 3 years later with added progesterone to bring on monthly periods. […] A minority of girls with Turner syndrome experience some physical changes naturally during puberty, but only a very small number become pregnant naturally.
  • #58 About Turner Syndrome
    http://www.genome.gov/Genetic-Disorders/Turner-Syndrome
    Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems. […] Girls who have Turner syndrome are shorter than average. They often have normal height for the first three years of life, but then have a slow growth rate. At puberty they do not have the usual growth spurt. Non-functioning ovaries are another symptom of Turner syndrome. Normally a girl’s ovaries begin to produce sex hormones (estrogen and progesterone) at puberty. This does not happen in most girls who have Turner syndrome. They do not start their periods or develop breasts without hormone treatment at the age of puberty. Even though many women who have Turner have non-functioning ovaries and are infertile, their vagina and womb are totally normal.
  • #59 Azthena logo with the word Azthena
    https://www.news-medical.net/health/Turner-Syndrome-Signs-and-Symptoms.aspx
    Although the ovaries and production of sex hormones are greatly altered in women with Turner syndrome, the structure and development of the vagina is normal. This allows them to engage in sexual activities if desired, although they are usually infertile and unable to conceive a child without treatment. […] Women with Turner syndrome are more likely to be affected by some other health conditions such as: Frequent urinary tract infections (UTIs), Hypothyroidism, Hypertension, Osteoporosis, Scoliosis, Diabetes, Obesity, Lymphedema, Digestive bleeding, Crohns disease and ulcerative colitis, Heart murmur due to narrow aorta and hypertension.
  • #60 Turner’s syndrome | Better Health Channel
    https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/turners-syndrome
    Turners syndrome is a random genetic disorder that affects females. The main characteristics include short stature and infertility. The most significant features of Turners syndrome include short stature average adult height is 143 cm (4 8), infertility due to underdeveloped ovaries, congenital heart defects in about 50 per cent of affected women, spatial awareness issues problems with tasks such as maths, absence of menstruation (amenorrhoea), and hearing problems. Turners syndrome is a lifelong condition. However, many treatment options are available to help affected girls and women reach their potential in all aspects of life. Treatment aims to correct any physical defects and help bring about puberty. […] Infertility is caused by the failure of the ovaries to grow properly they then undergo a premature menopause. There may be some eggs present at birth, but these degenerate soon after. Only around five to 10 per cent of girls with Turners syndrome menstruate naturally and the rest need hormone replacement therapy.
  • #61 Turner Syndrome: Symptoms, Tests, and Treatment
    https://patient.info/childrens-health/turner-syndrome-leaflet
    For example, about half will have an abnormality with the heart or major blood vessels. Up to 6 in 10 will have an abnormality of the kidneys or urinary tract. […] Almost all girls with Turner syndrome have ovaries that do not work properly. As a result, they may not go through puberty, may have breasts which do not develop properly, and may not ever get a period, and are likely to be infertile. However, up to 3 in 10 girls will have some changes of puberty and 1 in 200 may be able to get pregnant naturally. […] Note: although there are often problems with ovaries, women with Turner syndrome still have a normal vagina and womb and can have a normal sex life. […] When they become adults, most girls with Turner syndrome will be shorter than average and infertile. However, the development of growth hormone treatment has improved the expected adult height for those treated. The most significant risk faced is that of heart and blood vessel problems. But, regular checks and treatment where necessary have reduced the impact of these complications. Overall, life expectancy is only slightly reduced and quality of life is usually normal. Most girls with Turner syndrome have normal intelligence and have the potential to lead happy and full lives.
  • #62
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    Most girls with Turner syndrome do not produce enough of these sex hormones, which means: they may not begin sexual development or fully develop breasts without female hormone replacement therapy (HRT); they may begin sexual development but not complete it; they may not start their monthly periods naturally; it’s likely they’ll need help to have a baby. […] Even though many women with Turner syndrome have undeveloped ovaries and are infertile, their vagina and womb develop normally. […] Most girls need hormone replacement therapy (HRT) with oestrogen from around 10 to 12 years of age to begin breast development, and about 3 years later with added progesterone to bring on monthly periods. […] A minority of girls with Turner syndrome experience some physical changes naturally during puberty, but only a very small number become pregnant naturally.
  • #63 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Patients with Turner syndrome usually have normal intelligence but may have specific neurocognitive deficits, e.g., problems with visuospatial organization. This situation can lead to an increased risk of learning disabilities, especially involving calculations, memory, and attention. In adolescence, females will often present with delayed puberty or primary amenorrhea, secondary to premature ovarian failure. Streak gonads are a characteristic of Turner syndrome. These are the ovaries, mainly consisting of connective tissue and no follicles or only a few atretic follicles. […] Patients with Turner syndrome also have an increased risk of cardiovascular malformations, which in turn leads to increased mortality risk in these individuals. Some of the cardiac malformations are aortic valve abnormalities (primarily bicuspid aortic valve), elongated transverse aortic arch, pulmonary venous anomalies. Aortic dissection further increases the risk of death in these patients. Hearing loss is common due to either recurrent otitis media causing conductive hearing loss, or due to the defect in the outer hair cells on the cochlea causing sensorineural hearing loss.
  • #64 Turner syndrome: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/turner-syndrome/
    About 30 percent of individuals with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One-third to one-half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery that leaves the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta to the heart (the aortic valve). Complications associated with these heart defects can be life-threatening. […] Most people with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.
  • #65 Turner Syndrome | Children’s Hospital Los Angeles
    https://www.chla.org/turner-syndrome
    Turner syndrome can affect many different organs and body systems. Some conditions may be present at birth, while others may develop later. Conditions associated with TS include congenital heart defects, kidney and liver abnormalities, frequent middle ear infections and hearing problems, autoimmune disorders, such as thyroid disease, celiac disease and diabetes, and learning difficulties. […] Approximately half of females with Turner syndrome, a genetic condition affecting the X chromosomes, are born with heart problems. Those who aren’t born with heart conditions remain at higher risk for developing heart disease throughout their lives. […] Common heart conditions in children with Turner syndrome include bicuspid aortic valve, coarctation (narrowing) of the aorta, aortic dilatation (widening), aortic stenosis, anomalous pulmonary venous return (APVR), and other left heart anomalies. […] If your child has Turner syndrome, it is important to go to a cardiologist to look for any potential heart problems. All children with Turner syndrome need ongoing cardiac monitoring.
  • #66 Turner syndrome: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/turner-syndrome/
    About 30 percent of individuals with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One-third to one-half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery that leaves the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta to the heart (the aortic valve). Complications associated with these heart defects can be life-threatening. […] Most people with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.
  • #67 Turner Syndrome | Children’s Hospital Los Angeles
    https://www.chla.org/turner-syndrome
    Turner syndrome can affect many different organs and body systems. Some conditions may be present at birth, while others may develop later. Conditions associated with TS include congenital heart defects, kidney and liver abnormalities, frequent middle ear infections and hearing problems, autoimmune disorders, such as thyroid disease, celiac disease and diabetes, and learning difficulties. […] Approximately half of females with Turner syndrome, a genetic condition affecting the X chromosomes, are born with heart problems. Those who aren’t born with heart conditions remain at higher risk for developing heart disease throughout their lives. […] Common heart conditions in children with Turner syndrome include bicuspid aortic valve, coarctation (narrowing) of the aorta, aortic dilatation (widening), aortic stenosis, anomalous pulmonary venous return (APVR), and other left heart anomalies. […] If your child has Turner syndrome, it is important to go to a cardiologist to look for any potential heart problems. All children with Turner syndrome need ongoing cardiac monitoring.
  • #68 Turner Syndrome | Children’s Hospital Los Angeles
    https://www.chla.org/turner-syndrome
    Turner syndrome can affect many different organs and body systems. Some conditions may be present at birth, while others may develop later. Conditions associated with TS include congenital heart defects, kidney and liver abnormalities, frequent middle ear infections and hearing problems, autoimmune disorders, such as thyroid disease, celiac disease and diabetes, and learning difficulties. […] Approximately half of females with Turner syndrome, a genetic condition affecting the X chromosomes, are born with heart problems. Those who aren’t born with heart conditions remain at higher risk for developing heart disease throughout their lives. […] Common heart conditions in children with Turner syndrome include bicuspid aortic valve, coarctation (narrowing) of the aorta, aortic dilatation (widening), aortic stenosis, anomalous pulmonary venous return (APVR), and other left heart anomalies. […] If your child has Turner syndrome, it is important to go to a cardiologist to look for any potential heart problems. All children with Turner syndrome need ongoing cardiac monitoring.
  • #69 Turner Syndrome – GenTAC Alliance
    https://www.gentacalliance.org/conditions/turner-syndrome/
    Turner syndrome (TS) is a genetic condition occurring predominantly in girls and women. It is caused by the absence of all or part of the second sex chromosome. The most common features of TS include short stature, short thick neck, certain facial features, heart defects, hormonal abnormalities, delayed puberty, and infertility. Some babies with TS are born with swelling of the feet or neck, called lymphedema. Other issues include abnormally shaped kidney, hearing loss, and thyroid abnormalities. Heart defects are one of the most common features of TS, and for many families may be one of the most concerning. Somewhere between 25-50% of patients with TS are found to have some type of abnormality relating to the heart and blood vessels. Over time, one of the most important concerns is that the aorta can begin to get larger (dilates). This happens most frequently in the first portion, the ascending aorta. If the aorta continues to get larger, there is increasing risk that the aorta can tear (aortic dissection), which is a rare but life-threatening complication.
  • #70 Turner Syndrome | Children’s Hospital Los Angeles
    https://www.chla.org/turner-syndrome
    Turner syndrome can affect many different organs and body systems. Some conditions may be present at birth, while others may develop later. Conditions associated with TS include congenital heart defects, kidney and liver abnormalities, frequent middle ear infections and hearing problems, autoimmune disorders, such as thyroid disease, celiac disease and diabetes, and learning difficulties. […] Approximately half of females with Turner syndrome, a genetic condition affecting the X chromosomes, are born with heart problems. Those who aren’t born with heart conditions remain at higher risk for developing heart disease throughout their lives. […] Common heart conditions in children with Turner syndrome include bicuspid aortic valve, coarctation (narrowing) of the aorta, aortic dilatation (widening), aortic stenosis, anomalous pulmonary venous return (APVR), and other left heart anomalies. […] If your child has Turner syndrome, it is important to go to a cardiologist to look for any potential heart problems. All children with Turner syndrome need ongoing cardiac monitoring.
  • #71 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #72 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #73 Turner Syndrome – Pediatrics – Merck Manual Professional Edition
    https://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-abnormalities/turner-syndrome
    Many neonates are very mildly affected; however, some present with marked dorsal lymphedema of the hands and feet and with lymphedema or loose folds of skin over the back of the neck. Other frequent anomalies include a webbed neck and a broad chest with widely spaced and inverted nipples. Affected girls often are short in stature compared with family members, and obesity is common. […] Symptoms of cardiac anomalies depend on severity. Coarctation of the aorta can cause high blood pressure in the upper extremities, diminished femoral pulses, and low or absent blood pressure in the lower extremities. […] Gonadal dysgenesis results in premature ovarian failure in most patients, manifested by absent or incomplete pubertal development, lack of breast development, amenorrhea (most patients have primary amenorrhea, but some have menarche and then secondary amenorrhea due to gonadal dysgenesis with premature ovarian failure), and infertility. A small proportion of patients have normal puberty and reproductive function.
  • #74 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Patients with Turner syndrome usually have normal intelligence but may have specific neurocognitive deficits, e.g., problems with visuospatial organization. This situation can lead to an increased risk of learning disabilities, especially involving calculations, memory, and attention. In adolescence, females will often present with delayed puberty or primary amenorrhea, secondary to premature ovarian failure. Streak gonads are a characteristic of Turner syndrome. These are the ovaries, mainly consisting of connective tissue and no follicles or only a few atretic follicles. […] Patients with Turner syndrome also have an increased risk of cardiovascular malformations, which in turn leads to increased mortality risk in these individuals. Some of the cardiac malformations are aortic valve abnormalities (primarily bicuspid aortic valve), elongated transverse aortic arch, pulmonary venous anomalies. Aortic dissection further increases the risk of death in these patients. Hearing loss is common due to either recurrent otitis media causing conductive hearing loss, or due to the defect in the outer hair cells on the cochlea causing sensorineural hearing loss.
  • #75 Turner Syndrome | Children’s Hospital Los Angeles
    https://www.chla.org/turner-syndrome
    Turner syndrome can affect many different organs and body systems. Some conditions may be present at birth, while others may develop later. Conditions associated with TS include congenital heart defects, kidney and liver abnormalities, frequent middle ear infections and hearing problems, autoimmune disorders, such as thyroid disease, celiac disease and diabetes, and learning difficulties. […] Approximately half of females with Turner syndrome, a genetic condition affecting the X chromosomes, are born with heart problems. Those who aren’t born with heart conditions remain at higher risk for developing heart disease throughout their lives. […] Common heart conditions in children with Turner syndrome include bicuspid aortic valve, coarctation (narrowing) of the aorta, aortic dilatation (widening), aortic stenosis, anomalous pulmonary venous return (APVR), and other left heart anomalies. […] If your child has Turner syndrome, it is important to go to a cardiologist to look for any potential heart problems. All children with Turner syndrome need ongoing cardiac monitoring.
  • #76 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Renal anomalies are common in Turner syndrome and include collecting system malformations, positional abnormalities, and horseshoe kidneys. […] Turner syndrome increases the risk of autoimmune disorders, including hypothyroidism, celiac disease, and inflammatory bowel disease. Due to the presence of dysgenic gonads, females with Turner syndrome are at an increased risk of developing gonadoblastoma. […] Patients with Turner syndrome have an increased mortality rate, three times greater than the general population. Cardiovascular disease due to coronary heart disease and stroke in older patients is a significant factor. Of the congenital cardiovascular disease, an aortic aneurysm is the largest cause. Patients also demonstrate an increase in mortality due to pneumonia, diabetes, epilepsy, liver disease, and kidney disease.
  • #77 Turner Syndrome – GenTAC Alliance
    https://www.gentacalliance.org/conditions/turner-syndrome/
    Some babies with TS do not have any of these issues at birth but develop other features of TS later on (slow increase in height, lack of pubertal development, trouble conceiving, development of autoimmune disorders, high cholesterol, high blood pressure, and aortic aneurysm and dissection). […] When someone is first diagnosed with TS, a number of screening tests are recommended to check for medical issues that can happen in individuals with TS. It is important to have these tests even if an individual is not having any unusual symptoms, as some medical conditions may be present and can be diagnosed before symptoms arise. Early diagnosis of underlying medical problems may lead to earlier treatment and less severe problems. […] While the genetics of TS is different than other HTADs, girls and women with TS are at risk for aortic aneurysm and dissection and need to be monitored and treated for aortic complications.
  • #78 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Renal anomalies are common in Turner syndrome and include collecting system malformations, positional abnormalities, and horseshoe kidneys. […] Turner syndrome increases the risk of autoimmune disorders, including hypothyroidism, celiac disease, and inflammatory bowel disease. Due to the presence of dysgenic gonads, females with Turner syndrome are at an increased risk of developing gonadoblastoma. […] Patients with Turner syndrome have an increased mortality rate, three times greater than the general population. Cardiovascular disease due to coronary heart disease and stroke in older patients is a significant factor. Of the congenital cardiovascular disease, an aortic aneurysm is the largest cause. Patients also demonstrate an increase in mortality due to pneumonia, diabetes, epilepsy, liver disease, and kidney disease.
  • #79 Turner Syndrome | Symptoms, Diagnosis & Treatment
    https://www.cincinnatichildrens.org/health/t/turner-syndrome
    Frequent middle ear infections […] Hearing loss […] Osteoporosis, a condition where the bones become weak and brittle […] Scoliosis, a sideways curvature of the spine […] High blood pressure […] Valve and aorta (main artery leading away from the heart) problems […] Structural conditions, such as a horseshoe kidney, where the kidneys are fused together at the lower end […] Urinary tract infections […] Type 2 diabetes […] Heart disease […] Anxiety and depression […] Attention deficit hyperactivity disorder (ADHD) […] Slower brain processing speed […] Nonverbal learning disabilities. […] Proper diagnosis and treatment can help manage these symptoms.
  • #80 Late to Diagnosis: Turner Syndrome | Children’s Hospital of Philadelphia
    https://www.chop.edu/news/late-diagnosis-turner-syndrome
    Coarctation of the aorta and bicuspid aortic valves are the most common cardiac anomalies. Hypertension is also common. Renal anomalies include horseshoe kidneys or duplication of the collecting system. […] Newly diagnosed patients with TS require endocrinology, genetics, and cardiology evaluations and a baseline renal ultrasound. Patients are managed by the Division of Endocrinology for treatment of growth and pubertal issues but also for overall disease management and surveillance. Treatment of short stature includes growth hormone therapy, which can improve final height. Hormonal therapy to initiate and maintain puberty is indicated if gonadal dysgenesis results in lack of spontaneous pubertal onset or incomplete puberty. […] Common Findings/Features of Turner Syndrome […] Short stature […] Lack of pubertal onset […] Pubertal onset but lack of progression […] Primary amenorrhea.
  • #81 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Renal anomalies are common in Turner syndrome and include collecting system malformations, positional abnormalities, and horseshoe kidneys. […] Turner syndrome increases the risk of autoimmune disorders, including hypothyroidism, celiac disease, and inflammatory bowel disease. Due to the presence of dysgenic gonads, females with Turner syndrome are at an increased risk of developing gonadoblastoma. […] Patients with Turner syndrome have an increased mortality rate, three times greater than the general population. Cardiovascular disease due to coronary heart disease and stroke in older patients is a significant factor. Of the congenital cardiovascular disease, an aortic aneurysm is the largest cause. Patients also demonstrate an increase in mortality due to pneumonia, diabetes, epilepsy, liver disease, and kidney disease.
  • #82 What are the symptoms of Turner syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development
    http://www.nichd.nih.gov/health/topics/turner/conditioninfo/symptoms
    Turner syndrome can cause problems with the heart or major blood vessels. In addition, some women and girls with Turner syndrome have high blood pressure. […] Kidney function is usually normal in Turner syndrome, but some people with this condition have kidneys that look abnormal. […] Women with Turner syndrome often have low levels of the hormone estrogen, which can put them at risk for osteoporosis. Osteoporosis can cause height loss and bone fractures. […] People with Turner syndrome are at higher risk for type 2 diabetes. […] Many people with Turner syndrome have thyroid issues. The most common one is hypothyroidism, or an underactive thyroid gland. […] People with Turner syndrome have normal intelligence. Some, however, have challenges learning mathematics or with visual-spatial coordination (such as determining the relative positions of objects in space).
  • #83 Turner Syndrome: Symptoms, Types, and Treatment
    https://www.verywellhealth.com/turner-syndrome-5025073
    Most people with Turner syndrome have normal intelligence. However, around 70% have some level of learning disability, most notably with visual-spatial and math skills. […] People with Turner syndrome almost always have problems related to reproductive health, including delayed puberty. The ovaries will often fail to develop normally before and after birth. This can cause symptoms like smaller than average height at birth, slowed growth, no growth spurts at expected times during childhood, delayed sexual development during puberty and teen years, irregular periods, and early menopause. Most females with Turner syndrome are unable to conceive a child without fertility treatment. […] People with Turner syndrome also have an increased risk of abnormally formed kidneys. This might cause problems, such as recurrent urinary tract infections. More concerning are potential heart defects, including those affecting the largest artery of the cardiovascular system called the aorta. These defects include bicuspid aortic valve, aortic stenosis, aortic dilation, and aortic dissection. Most people with Turner syndrome lead long lives. However, these issues and other complications increase the risk of early death in people with Turner syndrome.
  • #84 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Renal anomalies are common in Turner syndrome and include collecting system malformations, positional abnormalities, and horseshoe kidneys. […] Turner syndrome increases the risk of autoimmune disorders, including hypothyroidism, celiac disease, and inflammatory bowel disease. Due to the presence of dysgenic gonads, females with Turner syndrome are at an increased risk of developing gonadoblastoma. […] Patients with Turner syndrome have an increased mortality rate, three times greater than the general population. Cardiovascular disease due to coronary heart disease and stroke in older patients is a significant factor. Of the congenital cardiovascular disease, an aortic aneurysm is the largest cause. Patients also demonstrate an increase in mortality due to pneumonia, diabetes, epilepsy, liver disease, and kidney disease.
  • #85 Turner syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Turner_syndrome
    In addition to short stature, Turner syndrome is associated with a number of characteristic physical features. These include a short, webbed neck, low hairline, small chin and lower jaw, arched palate, and broad chest with widely-spaced nipples. […] Approximately half of individuals with Turner syndrome have congenital heart defects. […] Turner syndrome is associated with a broad variety of health considerations, such as liver and kidney issues, obesity, diabetes, and hypertension. […] Women with Turner syndrome are two to three times as likely to develop autoimmune disorders as the general population. […] Puberty is delayed or absent in Turner syndrome. […] Women with Turner syndrome are at extremely high risk for primary ovarian insufficiency (POI) and infertility.
  • #86 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Renal anomalies are common in Turner syndrome and include collecting system malformations, positional abnormalities, and horseshoe kidneys. […] Turner syndrome increases the risk of autoimmune disorders, including hypothyroidism, celiac disease, and inflammatory bowel disease. Due to the presence of dysgenic gonads, females with Turner syndrome are at an increased risk of developing gonadoblastoma. […] Patients with Turner syndrome have an increased mortality rate, three times greater than the general population. Cardiovascular disease due to coronary heart disease and stroke in older patients is a significant factor. Of the congenital cardiovascular disease, an aortic aneurysm is the largest cause. Patients also demonstrate an increase in mortality due to pneumonia, diabetes, epilepsy, liver disease, and kidney disease.
  • #87 What are the symptoms of Turner syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development
    http://www.nichd.nih.gov/health/topics/turner/conditioninfo/symptoms
    Turner syndrome can cause problems with the heart or major blood vessels. In addition, some women and girls with Turner syndrome have high blood pressure. […] Kidney function is usually normal in Turner syndrome, but some people with this condition have kidneys that look abnormal. […] Women with Turner syndrome often have low levels of the hormone estrogen, which can put them at risk for osteoporosis. Osteoporosis can cause height loss and bone fractures. […] People with Turner syndrome are at higher risk for type 2 diabetes. […] Many people with Turner syndrome have thyroid issues. The most common one is hypothyroidism, or an underactive thyroid gland. […] People with Turner syndrome have normal intelligence. Some, however, have challenges learning mathematics or with visual-spatial coordination (such as determining the relative positions of objects in space).
  • #88 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #89 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Renal anomalies are common in Turner syndrome and include collecting system malformations, positional abnormalities, and horseshoe kidneys. […] Turner syndrome increases the risk of autoimmune disorders, including hypothyroidism, celiac disease, and inflammatory bowel disease. Due to the presence of dysgenic gonads, females with Turner syndrome are at an increased risk of developing gonadoblastoma. […] Patients with Turner syndrome have an increased mortality rate, three times greater than the general population. Cardiovascular disease due to coronary heart disease and stroke in older patients is a significant factor. Of the congenital cardiovascular disease, an aortic aneurysm is the largest cause. Patients also demonstrate an increase in mortality due to pneumonia, diabetes, epilepsy, liver disease, and kidney disease.
  • #90 Celiac Disease and Turner Syndrome | BeyondCeliac.org
    https://www.beyondceliac.org/celiac-disease/related-conditions/turner-syndrome/
    Turner syndrome is a chromosomal condition that is caused when the secondary sex chromosome (the X chromosome) is missing or partially missing. This condition only affects women. It occurs in about 1 in 2000 live births, and up to 10% of all miscarriages are due to Turner syndrome. […] The signs and symptoms of Turner syndrome vary greatly, and women can be diagnosed before birth, at birth, or later in life during the teen years. This condition causes a number of specific physical characteristics, such as short stature and lack of sexual development at puberty. Other characteristics may include a wide neck, low-set ears, a small lower jaw, shorter fingers and toes and more. Women and girls with Turner syndrome have a higher incidence of osteoporosis, type 2 diabetes and hypothyroidism. This condition may also lead to infertility, heart defects, learning disabilities or difficulty in social situations. […] Studies have found that 4-6% of Turner syndrome patients also have celiac disease. […] It has been recommended that women with Turner syndrome should be regularly tested for celiac disease in addition to their other yearly exams.
  • #91 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Renal anomalies are common in Turner syndrome and include collecting system malformations, positional abnormalities, and horseshoe kidneys. […] Turner syndrome increases the risk of autoimmune disorders, including hypothyroidism, celiac disease, and inflammatory bowel disease. Due to the presence of dysgenic gonads, females with Turner syndrome are at an increased risk of developing gonadoblastoma. […] Patients with Turner syndrome have an increased mortality rate, three times greater than the general population. Cardiovascular disease due to coronary heart disease and stroke in older patients is a significant factor. Of the congenital cardiovascular disease, an aortic aneurysm is the largest cause. Patients also demonstrate an increase in mortality due to pneumonia, diabetes, epilepsy, liver disease, and kidney disease.
  • #92 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #93 Turner Syndrome: Symptoms, Types, and Treatment
    https://www.verywellhealth.com/turner-syndrome-5025073
    Turner syndrome also increases the risk of certain autoimmune diseases, including hypothyroidism, celiac disease, inflammatory bowel disease, and type 1 diabetes. Hearing loss and vision problems are also common. […] Turner syndrome is a genetic disorder in females caused by a missing or abnormal X chromosome. This can lead to symptoms like short stature, delayed puberty, reproductive problems, and heart defects, among other things. Learning disabilities are also common.
  • #94 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Some common complications or associated findings with Turner syndrome are: Hearing loss, Hypothyroidism, Liver function abnormalities, Neurocognitive deficits and may require special services in school, Increased risk of autoimmune diseases, Aortic dissection, Gonadoblastoma risk increases in the women with the Y chromosome, Metabolic disorders central obesity, insulin resistance, diabetes mellitus type 2, dyslipidemia.
  • #95 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Some common complications or associated findings with Turner syndrome are: Hearing loss, Hypothyroidism, Liver function abnormalities, Neurocognitive deficits and may require special services in school, Increased risk of autoimmune diseases, Aortic dissection, Gonadoblastoma risk increases in the women with the Y chromosome, Metabolic disorders central obesity, insulin resistance, diabetes mellitus type 2, dyslipidemia.
  • #96 Turner syndrome | healthdirect
    https://www.healthdirect.gov.au/turner-syndrome
    Turner syndrome doesn’t usually affect intelligence, but some people with Turner syndrome have lower emotional maturity, problems with memory or challenges with non-verbal or spatial learning. […] Turner syndrome can increase the risk of other health issues such as: type 2 diabetes, high cholesterol levels, high blood pressure, middle ear and urinary infections, congenital heart defects. […] Most people with Turner syndrome have normal intelligence and a normal life expectancy. Some may experience specific learning difficulties and mental health challenges. It’s a good idea for you or your child to see your health team regularly, so they can monitor your cognitive development and mental health and offer support if needed. […] Many people with Turner syndrome have trouble becoming pregnant. Speak to your doctor to find out more about fertility treatments.
  • #97 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Some common complications or associated findings with Turner syndrome are: Hearing loss, Hypothyroidism, Liver function abnormalities, Neurocognitive deficits and may require special services in school, Increased risk of autoimmune diseases, Aortic dissection, Gonadoblastoma risk increases in the women with the Y chromosome, Metabolic disorders central obesity, insulin resistance, diabetes mellitus type 2, dyslipidemia.
  • #98 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Some common complications or associated findings with Turner syndrome are: Hearing loss, Hypothyroidism, Liver function abnormalities, Neurocognitive deficits and may require special services in school, Increased risk of autoimmune diseases, Aortic dissection, Gonadoblastoma risk increases in the women with the Y chromosome, Metabolic disorders central obesity, insulin resistance, diabetes mellitus type 2, dyslipidemia.
  • #99 What are the symptoms of Turner syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development
    http://www.nichd.nih.gov/health/topics/turner/conditioninfo/symptoms
    Turner syndrome can cause problems with the heart or major blood vessels. In addition, some women and girls with Turner syndrome have high blood pressure. […] Kidney function is usually normal in Turner syndrome, but some people with this condition have kidneys that look abnormal. […] Women with Turner syndrome often have low levels of the hormone estrogen, which can put them at risk for osteoporosis. Osteoporosis can cause height loss and bone fractures. […] People with Turner syndrome are at higher risk for type 2 diabetes. […] Many people with Turner syndrome have thyroid issues. The most common one is hypothyroidism, or an underactive thyroid gland. […] People with Turner syndrome have normal intelligence. Some, however, have challenges learning mathematics or with visual-spatial coordination (such as determining the relative positions of objects in space).
  • #100 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Some common complications or associated findings with Turner syndrome are: Hearing loss, Hypothyroidism, Liver function abnormalities, Neurocognitive deficits and may require special services in school, Increased risk of autoimmune diseases, Aortic dissection, Gonadoblastoma risk increases in the women with the Y chromosome, Metabolic disorders central obesity, insulin resistance, diabetes mellitus type 2, dyslipidemia.
  • #101 Turner syndrome | healthdirect
    https://www.healthdirect.gov.au/turner-syndrome
    Turner syndrome doesn’t usually affect intelligence, but some people with Turner syndrome have lower emotional maturity, problems with memory or challenges with non-verbal or spatial learning. […] Turner syndrome can increase the risk of other health issues such as: type 2 diabetes, high cholesterol levels, high blood pressure, middle ear and urinary infections, congenital heart defects. […] Most people with Turner syndrome have normal intelligence and a normal life expectancy. Some may experience specific learning difficulties and mental health challenges. It’s a good idea for you or your child to see your health team regularly, so they can monitor your cognitive development and mental health and offer support if needed. […] Many people with Turner syndrome have trouble becoming pregnant. Speak to your doctor to find out more about fertility treatments.
  • #102 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #103 Turner Syndrome: Symptoms and Treatment | Doctor
    https://patient.info/doctor/turner-syndrome-pro
    Adolescence: impaired pubertal growth spurt (even with oestrogen induction), ovarian failure (absent/incomplete puberty), obesity, hypertension, increased prevalence of immune disorders (eg, autoimmune thyroiditis, coeliac disease, inflammatory bowel disease), specific learning difficulties, social vulnerability, foot problems. […] Adulthood: infertility, obesity, hypertension, aortic dilatation/dissection, autoimmune thyroiditis, osteoporosis, visuospatial difficulties, sensorineural deafness. […] Patients are usually shorter than average (even with growth hormone therapy) and almost all are infertile (although assisted fertility may be successful). […] The mortality rate is three times greater than the general population due to complications from cardiovascular disease such as coronary heart disease and stroke. Congenital aortic aneurysm, pneumonia, diabetes, epilepsy, liver disease, and kidney disease are also responsible for an increase in mortality.
  • #104 What are the symptoms of Turner syndrome? | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Development
    http://www.nichd.nih.gov/health/topics/turner/conditioninfo/symptoms
    Turner syndrome can cause problems with the heart or major blood vessels. In addition, some women and girls with Turner syndrome have high blood pressure. […] Kidney function is usually normal in Turner syndrome, but some people with this condition have kidneys that look abnormal. […] Women with Turner syndrome often have low levels of the hormone estrogen, which can put them at risk for osteoporosis. Osteoporosis can cause height loss and bone fractures. […] People with Turner syndrome are at higher risk for type 2 diabetes. […] Many people with Turner syndrome have thyroid issues. The most common one is hypothyroidism, or an underactive thyroid gland. […] People with Turner syndrome have normal intelligence. Some, however, have challenges learning mathematics or with visual-spatial coordination (such as determining the relative positions of objects in space).
  • #105 About Turner Syndrome
    https://www.genome.gov/Genetic-Disorders/Turner-Syndrome
    Additional symptoms of Turner syndrome include the following: An especially wide neck (webbed neck) and a low or indistinct hairline. A broad chest and widely spaced nipples. Arms that turn out slightly at the elbow. A heart murmur, sometimes associated with narrowing of the aorta (blood vessel exiting the heart). A tendency to develop high blood pressure (so this should be checked regularly). Minor eye problems that are corrected by glasses. Scoliosis (deformity of the spine) occurs in 10 percent of adolescent girls who have Turner syndrome. The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome. Regular blood tests are necessary to detect it early and if necessary treat with thyroid replacement. Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.
  • #106 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #107 About Turner Syndrome
    https://www.genome.gov/Genetic-Disorders/Turner-Syndrome
    Additional symptoms of Turner syndrome include the following: An especially wide neck (webbed neck) and a low or indistinct hairline. A broad chest and widely spaced nipples. Arms that turn out slightly at the elbow. A heart murmur, sometimes associated with narrowing of the aorta (blood vessel exiting the heart). A tendency to develop high blood pressure (so this should be checked regularly). Minor eye problems that are corrected by glasses. Scoliosis (deformity of the spine) occurs in 10 percent of adolescent girls who have Turner syndrome. The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome. Regular blood tests are necessary to detect it early and if necessary treat with thyroid replacement. Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.
  • #108 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #109 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome is the most common sex chromosomal abnormality found in females. […] This activity describes the clinical manifestations, complications, evaluation, and management of Turner syndrome and highlights the role of the interprofessional team approach in managing patients with this condition. […] Turner syndrome can be identified prenatally with abnormal ultrasound findings of increased nuchal translucency, nuchal cystic hygroma, coarctation of the aorta/left-sided cardiac anomalies, brachycephaly, horseshoe kidney, polyhydramnios, oligohydramnios or non-immune fetal hydrops. In the female newborn, Turner syndrome can present with congenital lymphedema of the hands and feet, webbed neck, nail dysplasia, narrow and high-arched palate, and short fourth metacarpals or metatarsals. As they grow up, the girls develop short stature, shield chest with widely spaced nipples, webbed neck, low hairline at the base of the neck, cubitus valgus, and Madelung deformity of the forearm and the wrist.
  • #110 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #111 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome is the most common sex chromosomal abnormality found in females. […] This activity describes the clinical manifestations, complications, evaluation, and management of Turner syndrome and highlights the role of the interprofessional team approach in managing patients with this condition. […] Turner syndrome can be identified prenatally with abnormal ultrasound findings of increased nuchal translucency, nuchal cystic hygroma, coarctation of the aorta/left-sided cardiac anomalies, brachycephaly, horseshoe kidney, polyhydramnios, oligohydramnios or non-immune fetal hydrops. In the female newborn, Turner syndrome can present with congenital lymphedema of the hands and feet, webbed neck, nail dysplasia, narrow and high-arched palate, and short fourth metacarpals or metatarsals. As they grow up, the girls develop short stature, shield chest with widely spaced nipples, webbed neck, low hairline at the base of the neck, cubitus valgus, and Madelung deformity of the forearm and the wrist.
  • #112 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #113 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Patients with Turner syndrome usually have normal intelligence but may have specific neurocognitive deficits, e.g., problems with visuospatial organization. This situation can lead to an increased risk of learning disabilities, especially involving calculations, memory, and attention. In adolescence, females will often present with delayed puberty or primary amenorrhea, secondary to premature ovarian failure. Streak gonads are a characteristic of Turner syndrome. These are the ovaries, mainly consisting of connective tissue and no follicles or only a few atretic follicles. […] Patients with Turner syndrome also have an increased risk of cardiovascular malformations, which in turn leads to increased mortality risk in these individuals. Some of the cardiac malformations are aortic valve abnormalities (primarily bicuspid aortic valve), elongated transverse aortic arch, pulmonary venous anomalies. Aortic dissection further increases the risk of death in these patients. Hearing loss is common due to either recurrent otitis media causing conductive hearing loss, or due to the defect in the outer hair cells on the cochlea causing sensorineural hearing loss.
  • #114 Turner syndrome: MedlinePlus GeneticsLock
    https://medlineplus.gov/genetics/condition/turner-syndrome/
    About 30 percent of individuals with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One-third to one-half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery that leaves the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta to the heart (the aortic valve). Complications associated with these heart defects can be life-threatening. […] Most people with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.
  • #115 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Patients with Turner syndrome usually have normal intelligence but may have specific neurocognitive deficits, e.g., problems with visuospatial organization. This situation can lead to an increased risk of learning disabilities, especially involving calculations, memory, and attention. In adolescence, females will often present with delayed puberty or primary amenorrhea, secondary to premature ovarian failure. Streak gonads are a characteristic of Turner syndrome. These are the ovaries, mainly consisting of connective tissue and no follicles or only a few atretic follicles. […] Patients with Turner syndrome also have an increased risk of cardiovascular malformations, which in turn leads to increased mortality risk in these individuals. Some of the cardiac malformations are aortic valve abnormalities (primarily bicuspid aortic valve), elongated transverse aortic arch, pulmonary venous anomalies. Aortic dissection further increases the risk of death in these patients. Hearing loss is common due to either recurrent otitis media causing conductive hearing loss, or due to the defect in the outer hair cells on the cochlea causing sensorineural hearing loss.
  • #116 Pediatric Turner Syndrome – Conditions and Treatments | Children’s National Hospital
    https://www.childrensnational.org/get-care/health-library/turner-syndrome
    There is no cure for TS. But many of the more serious problems can be treated. For example, growth hormone and androgen therapy can increase the final adult height of a girl. She can also take hormone therapy to develop secondary sex traits, such as breasts, pubic hair and underarm hair. […] Being shorter than normal is the most common feature of TS as a girl grows. The average adult height of a woman with TS is 4 feet, 8 inches. […] Most women with TS are born with poorly formed or missing ovaries. Ovaries make estrogen. Without it, a girl with TS will not develop sexually. The normal signs of puberty dont happen unless the girl is given hormone therapy. This includes breast development, menstrual periods, and growth of pubic hair and hair elsewhere on the body. […] Other common problems with TS affect the heart, kidney, and thyroid. About 1 in 10 girls with TS is born with coarctation of the aorta. This means the main artery that leaves the heart is narrowed.
  • #117
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    There are many other symptoms or characteristics that can affect girls and women with Turner syndrome. […] Most girls with Turner syndrome have good language and reading skills. However, some have behavioural, social and specific learning difficulties. […] Typically, girls with Turner syndrome will go through a phase in childhood that involves: physical overactivity, such as constant fidgeting and restlessness; acting impulsively, such as breaking rules or having no sense of danger; having a short attention span and being easily distracted. […] The physical hyperactivity usually reduces around the time the girl starts secondary school at 11 years of age, although problems with inattention can last longer, into the teens.
  • #118 Turner Syndrome | Boston Children’s Hospital
    https://www.childrenshospital.org/conditions/turner-syndrome
    Turner syndrome can cause a wide variety of symptoms that affect a range of organs, including the heart, eyes, ears, bones, and kidneys. Most girls with Turner syndrome are born with poorly formed or missing ovaries, which can result in a failure to reach puberty and infertility. Many are also short in stature. […] The symptoms of Turner syndrome can vary from girl to girl, depending on how much of the X chromosome is missing and which part is missing. […] The most obvious symptom of Turner syndrome is a shorter-than-normal height. Girls with Turner syndrome usually have a decrease in growth percentiles starting between ages 4 and 6. […] Other symptoms of Turner syndrome can include: Feeding problems during infancy, Puffy hands and feet at birth, as well as a wideness and „webbing” of the neck, A low hairline at the back of the neck, Minor differences in the shape and position of ears, A broad chest with widely spaced nipples, An increased number of small brown moles (called nevi) on the skin, Frequent ear infections, Sparse pubic hair, Incomplete breast development, Inability to menstruate, Vaginal dryness, Skeletal problems, Problems with spatial perception, non-verbal memory and attention.
  • #119 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Patients with Turner syndrome usually have normal intelligence but may have specific neurocognitive deficits, e.g., problems with visuospatial organization. This situation can lead to an increased risk of learning disabilities, especially involving calculations, memory, and attention. In adolescence, females will often present with delayed puberty or primary amenorrhea, secondary to premature ovarian failure. Streak gonads are a characteristic of Turner syndrome. These are the ovaries, mainly consisting of connective tissue and no follicles or only a few atretic follicles. […] Patients with Turner syndrome also have an increased risk of cardiovascular malformations, which in turn leads to increased mortality risk in these individuals. Some of the cardiac malformations are aortic valve abnormalities (primarily bicuspid aortic valve), elongated transverse aortic arch, pulmonary venous anomalies. Aortic dissection further increases the risk of death in these patients. Hearing loss is common due to either recurrent otitis media causing conductive hearing loss, or due to the defect in the outer hair cells on the cochlea causing sensorineural hearing loss.
  • #120 Turner syndrome: Symptoms, causes, and treatment
    https://www.medicalnewstoday.com/articles/176083
    In some cases, TS may not become apparent until later on. […] Later signs and symptoms include: Irregular growth: Growth spurts may not occur at expected childhood times. During the first 3 years of life, the infant may have normal height, but by the age of 3 years, their growth rate will be lower than average, and by the age of 5 years, short stature will be noticeable. […] Short stature: An adult female may be about 8 inches, or 20 centimeters, shorter than expected for an adult female member of that family, unless they have treatment. […] Most girls with TS have normal intelligence and good verbal and reading skills, but some may have problems with math, spatial concepts, memory skills, and fine finger movements. […] Normally, during puberty, a females ovaries start producing the sex hormones, estrogen, and progesterone. Most girls with TS will not produce these sex hormones.
  • #121 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Patients with Turner syndrome usually have normal intelligence but may have specific neurocognitive deficits, e.g., problems with visuospatial organization. This situation can lead to an increased risk of learning disabilities, especially involving calculations, memory, and attention. In adolescence, females will often present with delayed puberty or primary amenorrhea, secondary to premature ovarian failure. Streak gonads are a characteristic of Turner syndrome. These are the ovaries, mainly consisting of connective tissue and no follicles or only a few atretic follicles. […] Patients with Turner syndrome also have an increased risk of cardiovascular malformations, which in turn leads to increased mortality risk in these individuals. Some of the cardiac malformations are aortic valve abnormalities (primarily bicuspid aortic valve), elongated transverse aortic arch, pulmonary venous anomalies. Aortic dissection further increases the risk of death in these patients. Hearing loss is common due to either recurrent otitis media causing conductive hearing loss, or due to the defect in the outer hair cells on the cochlea causing sensorineural hearing loss.
  • #122
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    There are many other symptoms or characteristics that can affect girls and women with Turner syndrome. […] Most girls with Turner syndrome have good language and reading skills. However, some have behavioural, social and specific learning difficulties. […] Typically, girls with Turner syndrome will go through a phase in childhood that involves: physical overactivity, such as constant fidgeting and restlessness; acting impulsively, such as breaking rules or having no sense of danger; having a short attention span and being easily distracted. […] The physical hyperactivity usually reduces around the time the girl starts secondary school at 11 years of age, although problems with inattention can last longer, into the teens.
  • #123
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    There are many other symptoms or characteristics that can affect girls and women with Turner syndrome. […] Most girls with Turner syndrome have good language and reading skills. However, some have behavioural, social and specific learning difficulties. […] Typically, girls with Turner syndrome will go through a phase in childhood that involves: physical overactivity, such as constant fidgeting and restlessness; acting impulsively, such as breaking rules or having no sense of danger; having a short attention span and being easily distracted. […] The physical hyperactivity usually reduces around the time the girl starts secondary school at 11 years of age, although problems with inattention can last longer, into the teens.
  • #124
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    There are many other symptoms or characteristics that can affect girls and women with Turner syndrome. […] Most girls with Turner syndrome have good language and reading skills. However, some have behavioural, social and specific learning difficulties. […] Typically, girls with Turner syndrome will go through a phase in childhood that involves: physical overactivity, such as constant fidgeting and restlessness; acting impulsively, such as breaking rules or having no sense of danger; having a short attention span and being easily distracted. […] The physical hyperactivity usually reduces around the time the girl starts secondary school at 11 years of age, although problems with inattention can last longer, into the teens.
  • #125
    https://111.wales.nhs.uk/encyclopaedia/t/article/turnersyndrome
    There are many other symptoms or characteristics that can affect girls and women with Turner syndrome. General features include a particularly short, wide neck (webbed neck), a broad chest and widely spaced nipples, arms that turn out slightly at the elbows, a low hairline, teeth problems, a large number of moles, small, spoon-shaped nails, and a short 4th finger or toe. […] Turner syndrome is often associated with a number of other health conditions, including heart murmur, kidney and urinary tract problems, underactive thyroid gland (hypothyroidism), high blood pressure (hypertension), osteoporosis (brittle bones), scoliosis (abnormal curvature of the spine), diabetes, obesity, lymphoedema, bleeding in the digestive system, and other digestive conditions. […] Most girls with Turner syndrome have good language and reading skills. However, some have behavioural, social and specific learning difficulties. Some girls with Turner syndrome have problems understanding social relationships, which can make it difficult to sustain friendships and leads to relationship problems in later life. Most females with Turner syndrome have difficulty understanding spatial relationships, which may cause problems when learning to drive or following directions on a map.
  • #126
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    There are many other symptoms or characteristics that can affect girls and women with Turner syndrome. […] Most girls with Turner syndrome have good language and reading skills. However, some have behavioural, social and specific learning difficulties. […] Typically, girls with Turner syndrome will go through a phase in childhood that involves: physical overactivity, such as constant fidgeting and restlessness; acting impulsively, such as breaking rules or having no sense of danger; having a short attention span and being easily distracted. […] The physical hyperactivity usually reduces around the time the girl starts secondary school at 11 years of age, although problems with inattention can last longer, into the teens.
  • #127
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    There are many other symptoms or characteristics that can affect girls and women with Turner syndrome. […] Most girls with Turner syndrome have good language and reading skills. However, some have behavioural, social and specific learning difficulties. […] Typically, girls with Turner syndrome will go through a phase in childhood that involves: physical overactivity, such as constant fidgeting and restlessness; acting impulsively, such as breaking rules or having no sense of danger; having a short attention span and being easily distracted. […] The physical hyperactivity usually reduces around the time the girl starts secondary school at 11 years of age, although problems with inattention can last longer, into the teens.
  • #128
    https://111.wales.nhs.uk/encyclopaedia/t/article/turnersyndrome
    There are many other symptoms or characteristics that can affect girls and women with Turner syndrome. General features include a particularly short, wide neck (webbed neck), a broad chest and widely spaced nipples, arms that turn out slightly at the elbows, a low hairline, teeth problems, a large number of moles, small, spoon-shaped nails, and a short 4th finger or toe. […] Turner syndrome is often associated with a number of other health conditions, including heart murmur, kidney and urinary tract problems, underactive thyroid gland (hypothyroidism), high blood pressure (hypertension), osteoporosis (brittle bones), scoliosis (abnormal curvature of the spine), diabetes, obesity, lymphoedema, bleeding in the digestive system, and other digestive conditions. […] Most girls with Turner syndrome have good language and reading skills. However, some have behavioural, social and specific learning difficulties. Some girls with Turner syndrome have problems understanding social relationships, which can make it difficult to sustain friendships and leads to relationship problems in later life. Most females with Turner syndrome have difficulty understanding spatial relationships, which may cause problems when learning to drive or following directions on a map.
  • #129
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    There are many other symptoms or characteristics that can affect girls and women with Turner syndrome. […] Most girls with Turner syndrome have good language and reading skills. However, some have behavioural, social and specific learning difficulties. […] Typically, girls with Turner syndrome will go through a phase in childhood that involves: physical overactivity, such as constant fidgeting and restlessness; acting impulsively, such as breaking rules or having no sense of danger; having a short attention span and being easily distracted. […] The physical hyperactivity usually reduces around the time the girl starts secondary school at 11 years of age, although problems with inattention can last longer, into the teens.
  • #130
    https://111.wales.nhs.uk/encyclopaedia/t/article/turnersyndrome
    Typically, girls with Turner syndrome will go through a phase in childhood that involves physical overactivity, acting impulsively, and having a short attention span and being easily distracted. Attention and hyperactivity problems usually begin when the girl is a toddler but may not be a serious problem until the girl starts school at 4 or 5.
  • #131 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Patients with Turner syndrome usually have normal intelligence but may have specific neurocognitive deficits, e.g., problems with visuospatial organization. This situation can lead to an increased risk of learning disabilities, especially involving calculations, memory, and attention. In adolescence, females will often present with delayed puberty or primary amenorrhea, secondary to premature ovarian failure. Streak gonads are a characteristic of Turner syndrome. These are the ovaries, mainly consisting of connective tissue and no follicles or only a few atretic follicles. […] Patients with Turner syndrome also have an increased risk of cardiovascular malformations, which in turn leads to increased mortality risk in these individuals. Some of the cardiac malformations are aortic valve abnormalities (primarily bicuspid aortic valve), elongated transverse aortic arch, pulmonary venous anomalies. Aortic dissection further increases the risk of death in these patients. Hearing loss is common due to either recurrent otitis media causing conductive hearing loss, or due to the defect in the outer hair cells on the cochlea causing sensorineural hearing loss.
  • #132 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #133 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Patients with Turner syndrome usually have normal intelligence but may have specific neurocognitive deficits, e.g., problems with visuospatial organization. This situation can lead to an increased risk of learning disabilities, especially involving calculations, memory, and attention. In adolescence, females will often present with delayed puberty or primary amenorrhea, secondary to premature ovarian failure. Streak gonads are a characteristic of Turner syndrome. These are the ovaries, mainly consisting of connective tissue and no follicles or only a few atretic follicles. […] Patients with Turner syndrome also have an increased risk of cardiovascular malformations, which in turn leads to increased mortality risk in these individuals. Some of the cardiac malformations are aortic valve abnormalities (primarily bicuspid aortic valve), elongated transverse aortic arch, pulmonary venous anomalies. Aortic dissection further increases the risk of death in these patients. Hearing loss is common due to either recurrent otitis media causing conductive hearing loss, or due to the defect in the outer hair cells on the cochlea causing sensorineural hearing loss.
  • #134 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #135 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #136 The basics about mosaic Turner syndrome
    https://www.massgeneral.org/children/turner-syndrome/the-basics-about-mosaic-turner-syndrome
    Turner syndrome (TS) is a rare genetic condition in which a girl or woman doesnt have the usual pair of 2 X chromosomes. The cause is a missing or incomplete X chromosome (the chromosome that determines a persons sex before birth). The missing gene prevents the body from growing and developing normally. […] Signs of Turner syndrome and Mosaic Turner syndrome can be similar: Height usually under 5 feet, Droopy (heavy) eyelids (ptosis), Differences in ear shape and position, Webbed neck (extra skin), Arms or feet that are puffy (lymphedema), Often, broad chest, High-arched roof of the mouth, Teeth that are crowded, Trouble with certain types of math, Learning difficulties in school, Reduced fertility, Delayed or absent periods. […] Women and girls with Mosaic TS tend to have fewer signs and health problems than those with typical TS. This is because only some cells are missing the second X chromosome in Mosaic TS. In typical TS, all of the cells in the body are missing the second X chromosome.
  • #137 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #138 What Is Turner Syndrome? Symptoms, Causes, Diagnosis, Treatment, and Prevention
    https://www.everydayhealth.com/turner-syndrome/guide/
    Turner syndrome is associated with a wide variety of physical characteristics, but not all of the characteristics are present in every individual who has it. The most common features of Turner syndrome are short stature and lack of puberty because the ovaries do not develop normally. […] Signs or symptoms of Turner syndrome at birth or during infancy include: Below-average length at birth, Delayed growth, Poorly developed toenails and fingernails, A high-arched palate, Forearms that angle away from the body (called cubitus valgus), Prominent, low-set ears, A low hairline at the back of the head, A small or receding chin, Folds of skin at the base of the neck or a webbed neck, Droopy eyelids, Multiple moles, Kyphosis (rounded spine), Scoliosis (curvature of the spine), Flat feet, Epicanthal folds (in which the skin of the upper eyelid covers the inner corners of the eyes), Strabismus (in which the eyes don’t align properly).
  • #139 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #140 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #141 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    These may include the following: Dental: A high arched palate, sometimes with dental crowding or malocclusion; Nails: Hypoplastic or hyperconvex nails; Nevi: Excessive numbers of nevi, when compared to other family members; Webbed neck: A broad neck and a low or indistinct hairline; Cubitus valgus (increased carrying angle); Madelung deformities of the wrist; Short fourth and fifth metacarpals and metatarsals; Shield chest: The chest appears to be broad with widely spaced nipples; Lymphedema; Eyes: Ptosis, strabismus, amblyopia, and cataracts; epicanthal folds can be present; red-green color blindness; Ears: Serous otitis media is more common; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis is common in adults; GI bleeding: This is usually due to intestinal vascular malformations, but the incidence of Crohn disease and ulcerative colitis is also increased; Scoliosis: This occurs in 10% of adolescents with Turner syndrome and may contribute to short stature; Hypertension: May be caused by coarctation of the aorta or renal anomalies but often occur even in the absence of such findings; Cardiac murmurs: Cardiovascular malformations include hypoplastic left heart, coarctation of the aorta, bicuspid aortic valve, and aortic dissection in adulthood; Thyroid: Hypothyroidism develops in 10-30% of patients and is often associated with thyroid enlargement; Cutis laxa: Loose folds of skin, particularly in the neck, are signs in newborns; this is a result of resolving lymphedema and occasionally is observed after infancy.
  • #142 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome is the most common sex chromosomal abnormality found in females. […] This activity describes the clinical manifestations, complications, evaluation, and management of Turner syndrome and highlights the role of the interprofessional team approach in managing patients with this condition. […] Turner syndrome can be identified prenatally with abnormal ultrasound findings of increased nuchal translucency, nuchal cystic hygroma, coarctation of the aorta/left-sided cardiac anomalies, brachycephaly, horseshoe kidney, polyhydramnios, oligohydramnios or non-immune fetal hydrops. In the female newborn, Turner syndrome can present with congenital lymphedema of the hands and feet, webbed neck, nail dysplasia, narrow and high-arched palate, and short fourth metacarpals or metatarsals. As they grow up, the girls develop short stature, shield chest with widely spaced nipples, webbed neck, low hairline at the base of the neck, cubitus valgus, and Madelung deformity of the forearm and the wrist.
  • #143 Turner Syndrome: Symptoms, Causes, Types, and Treatment | Metropolis Healthcare
    https://www.metropolisindia.com/blog/preventive-healthcare/understanding-turner-syndrome-symptoms-causes-types-and-treatment
    Turner syndrome is a genetic disorder that affects females, which is characterized by partial or completely absence of an X chromosome. Girls with Turner syndrome often exhibit short physiques, delayed puberty and infertility. Turner syndrome can also cause heart defects, learning disabilities, and other health problems. Diagnosis usually occurs in early childhood, allowing early intervention to manage Turner syndrome symptoms and improve quality of life for those affected. […] Identifying Turner syndrome symptoms can sometimes be challenging because they can range from subtle to significant. In some girls, physical characteristics appear early, while in others they develop slowly over time. Let’s take a closer look at some common Turner syndrome symptoms at different stages of life: […] Before Birth: Turner syndrome can be suspected during prenatal stages based on prenatal ultrasound. This could reveal abnormalities like large fluid collections at the back of the neck, heart defects, and abnormal kidneys.
  • #144 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome is the most common sex chromosomal abnormality found in females. […] This activity describes the clinical manifestations, complications, evaluation, and management of Turner syndrome and highlights the role of the interprofessional team approach in managing patients with this condition. […] Turner syndrome can be identified prenatally with abnormal ultrasound findings of increased nuchal translucency, nuchal cystic hygroma, coarctation of the aorta/left-sided cardiac anomalies, brachycephaly, horseshoe kidney, polyhydramnios, oligohydramnios or non-immune fetal hydrops. In the female newborn, Turner syndrome can present with congenital lymphedema of the hands and feet, webbed neck, nail dysplasia, narrow and high-arched palate, and short fourth metacarpals or metatarsals. As they grow up, the girls develop short stature, shield chest with widely spaced nipples, webbed neck, low hairline at the base of the neck, cubitus valgus, and Madelung deformity of the forearm and the wrist.
  • #145 Turner Syndrome – Pediatric Endocrine Society
    https://pedsendo.org/patient-resource/turner-syndrome/
    Turner syndrome can cause a variety of medical and developmental problems. The signs and symptoms depend on how the cells are affected by changes to the X chromosome. […] Typically, only one-third of patients are diagnosed in infancy. Sometimes, a prenatal ultrasound may identify certain abnormalities of the heart, kidneys, or lymph collection of the neck (a cystic hygroma). Findings in infancy that may suggest Turner syndrome include: Puffy hands and feet (lymphedema), Extra folds of skin over neck or swelling of lymph vessels in the neck, Heart abnormalities, particularly coarctation of the aorta. […] Signs of Turner syndrome leading to diagnosis in childhood may include: Short stature (seen in all patients), Webbing of neck, Low hairline at the back of the head, A high-arched roof of the mouth, An angle at the elbows when the arms are stretched out, Frequent ear infections and hearing problems, Failure of puberty to start by age 13 years.
  • #146 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome is the most common sex chromosomal abnormality found in females. […] This activity describes the clinical manifestations, complications, evaluation, and management of Turner syndrome and highlights the role of the interprofessional team approach in managing patients with this condition. […] Turner syndrome can be identified prenatally with abnormal ultrasound findings of increased nuchal translucency, nuchal cystic hygroma, coarctation of the aorta/left-sided cardiac anomalies, brachycephaly, horseshoe kidney, polyhydramnios, oligohydramnios or non-immune fetal hydrops. In the female newborn, Turner syndrome can present with congenital lymphedema of the hands and feet, webbed neck, nail dysplasia, narrow and high-arched palate, and short fourth metacarpals or metatarsals. As they grow up, the girls develop short stature, shield chest with widely spaced nipples, webbed neck, low hairline at the base of the neck, cubitus valgus, and Madelung deformity of the forearm and the wrist.
  • #147 What is Turner Syndrome? And Why Does It Affect Only Females?
    https://www.webmd.com/children/what-is-turner-syndrome
    Turner syndrome can cause symptoms throughout your life. Treatments and findings from ongoing research can help you manage its symptoms. About 70,000 women and people assigned female at birth in the U.S. live with Turner syndrome. […] Signs of Turner syndrome can start before birth, and they give parents some idea their baby might be born with this condition. An ultrasound of a baby with Turner syndrome may show heart and kidney problems or a buildup of fluid. […] At birth or during infancy, your child might have several physical features that point to the condition. Those include swollen hands and feet or smaller than average height at birth. […] Others include: A wide or weblike neck with extra folds of skin, receding or small lower jaw and a high, narrow roof of the mouth (palate), low-set ears and a low hairline, broad chest with widely spaced nipples, arms that turn outward at the elbows, short fingers and toes and narrow fingernails and toenails, delayed growth, heart defects, down-turning eyelids, short roots of teeth, kidney abnormalities, greater than usual number of moles on the skin, low sex hormone levels, small ovaries that may not work at all or only work for a few years, flat feet.
  • #148 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Turner syndrome, also referred to as congenital ovarian hypoplasia syndrome is the most common sex chromosomal abnormality found in females. […] This activity describes the clinical manifestations, complications, evaluation, and management of Turner syndrome and highlights the role of the interprofessional team approach in managing patients with this condition. […] Turner syndrome can be identified prenatally with abnormal ultrasound findings of increased nuchal translucency, nuchal cystic hygroma, coarctation of the aorta/left-sided cardiac anomalies, brachycephaly, horseshoe kidney, polyhydramnios, oligohydramnios or non-immune fetal hydrops. In the female newborn, Turner syndrome can present with congenital lymphedema of the hands and feet, webbed neck, nail dysplasia, narrow and high-arched palate, and short fourth metacarpals or metatarsals. As they grow up, the girls develop short stature, shield chest with widely spaced nipples, webbed neck, low hairline at the base of the neck, cubitus valgus, and Madelung deformity of the forearm and the wrist.
  • #149 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #150 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #151 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #152
    https://111.wales.nhs.uk/encyclopaedia/t/article/turnersyndrome
    Turner syndrome is a female-only genetic disorder that affects about 1 in every 2,000 baby girls. A girl with Turner syndrome only has one normal X sex chromosome, rather than the usual two. Females with Turner syndrome often have a wide range of symptoms and some distinctive characteristics. Almost all girls with Turner syndrome are shorter than average and have underdeveloped ovaries, resulting in a lack of monthly periods and infertility. As height and sexual development are the two main things affected, Turner syndrome may not be diagnosed until a girl fails to show sexual development associated with puberty, usually between the ages of 8 and 14 years. […] Almost all girls with Turner syndrome will grow up to be shorter than average, with underdeveloped ovaries. Girls with Turner syndrome also have distinctive features and associated health conditions, some of which may be apparent from birth. They may be born with swollen hands and feet, caused by a build-up of excess fluid (lymphoedema) in the surrounding tissues, but this usually clears soon after birth. Other features that may have developed in the womb include thick neck tissue, swelling of the neck (cystic hygroma), being a small baby, heart conditions, and kidney abnormalities.
  • #153 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    Turner syndrome may be diagnosed before birth (prenatally), during infancy or in early childhood. Occasionally, in females with mild signs and symptoms of Turner syndrome, the diagnosis is delayed until the teen or young adult years. […] Signs and symptoms of Turner syndrome may vary among girls and women with the disorder. For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, several physical features are apparent early. Signs and symptoms can be subtle, developing slowly over time, or significant, such as heart defects. […] Signs of Turner syndrome at birth or during infancy may include: Wide or weblike neck, Low-set ears, Broad chest with widely spaced nipples, High, narrow roof of the mouth (palate), Arms that turn outward at the elbows, Fingernails and toenails that are narrow and turned upward, Swelling of the hands and feet, especially at birth, Slightly smaller than average height at birth, Slowed growth, Cardiac defects, Low hairline at the back of the head, Receding or small lower jaw, Short fingers and toes.
  • #154 What is Turner Syndrome? And Why Does It Affect Only Females?
    https://www.webmd.com/children/what-is-turner-syndrome
    Turner syndrome can cause symptoms throughout your life. Treatments and findings from ongoing research can help you manage its symptoms. About 70,000 women and people assigned female at birth in the U.S. live with Turner syndrome. […] Signs of Turner syndrome can start before birth, and they give parents some idea their baby might be born with this condition. An ultrasound of a baby with Turner syndrome may show heart and kidney problems or a buildup of fluid. […] At birth or during infancy, your child might have several physical features that point to the condition. Those include swollen hands and feet or smaller than average height at birth. […] Others include: A wide or weblike neck with extra folds of skin, receding or small lower jaw and a high, narrow roof of the mouth (palate), low-set ears and a low hairline, broad chest with widely spaced nipples, arms that turn outward at the elbows, short fingers and toes and narrow fingernails and toenails, delayed growth, heart defects, down-turning eyelids, short roots of teeth, kidney abnormalities, greater than usual number of moles on the skin, low sex hormone levels, small ovaries that may not work at all or only work for a few years, flat feet.
  • #155 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #156 Turner syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Turner_syndrome
    Turner syndrome is associated with a number of physical features, including short stature, heart defects, webbed neck, micrognathia, amenorrhoea, and infertility. […] Signs and symptoms vary among those affected but often include additional skin folds on the neck, arched palate, low-set ears, low hairline at the nape of the neck, short stature, and lymphedema of the hands and feet. […] Heart defects, Type II diabetes, and hypothyroidism occur in the disorder more frequently than average. […] Turner syndrome is associated with short stature. The mean adult height of women with Turner syndrome without growth hormone therapy is around 20 cm (8 in) shorter than the mean of women in the general population. […] Growth delay in Turner syndrome does not begin at birth; most neonates with the condition have a birth weight in the lower end of the normal range. Height begins to lag in toddlerhood, with a delayed growth velocity becoming apparent as early as 18 months. Marked short stature becomes obvious in mid-childhood.
  • #157 About Turner Syndrome
    http://www.genome.gov/Genetic-Disorders/Turner-Syndrome
    Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems. […] Girls who have Turner syndrome are shorter than average. They often have normal height for the first three years of life, but then have a slow growth rate. At puberty they do not have the usual growth spurt. Non-functioning ovaries are another symptom of Turner syndrome. Normally a girl’s ovaries begin to produce sex hormones (estrogen and progesterone) at puberty. This does not happen in most girls who have Turner syndrome. They do not start their periods or develop breasts without hormone treatment at the age of puberty. Even though many women who have Turner have non-functioning ovaries and are infertile, their vagina and womb are totally normal.
  • #158 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #159 Turner Syndrome (Monosomy X): Causes, Symptoms, and More
    https://www.healthline.com/health/turner-syndrome
    People assigned female at birth with Turner syndrome can exhibit certain characteristics during infancy and in childhood, as well as into adulthood. […] Some signs of Turner syndrome during infancy include: small size, swelling of hands and feet, extra folds in the neck, heart abnormalities, difficulty with feeding. […] As a person grows up, the signs of Turner syndrome may become a bit more obvious. Some of these signs include: smaller in stature than most of their peers, below average in both height and weight, chronic ear infections, hearing issues, learning difficulties. […] One of the main symptoms of Turner syndrome is the underdevelopment of the ovaries. Because the ovaries are responsible for producing sex hormones, this underdevelopment can slow or stop the typical signs of puberty, such as breast development and menstruation, in people assigned female at birth.
  • #160 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #161 What is Turner Syndrome?
    https://www.turnersyndrome.org/ts-overview
    Some degree of the following conditions may be associated with TS: Short Stature, Receding Jaw, Narrow Roof of the Mouth, Knees Turn Inward, Short 4th toe, Broad chest, Forearm angled out from body, Short Neck due to underdeveloped spine, Low Hairline, Skin folds (webbing) running down the neck to the shoulders, Lymphedema (Swelling due to build-up of fluid), Keloid scarring (Thick, raised scar), Nail dysplasia (Small, narrowed, angled or missing nails). […] Some degree of the following conditions may also be associated with TS: re-curring middle ear infections, hearing loss, distinctive heart, liver, and kidney abnormalities, autoimmune disorders, such as underactive thyroid and celiac disease, difficulty with nonverbal communication skills, spatial relationships, such as driving or riding a bike, and executive functions.
  • #162 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #163 What is Turner Syndrome?
    https://www.turnersyndrome.org/ts-overview
    Some degree of the following conditions may be associated with TS: Short Stature, Receding Jaw, Narrow Roof of the Mouth, Knees Turn Inward, Short 4th toe, Broad chest, Forearm angled out from body, Short Neck due to underdeveloped spine, Low Hairline, Skin folds (webbing) running down the neck to the shoulders, Lymphedema (Swelling due to build-up of fluid), Keloid scarring (Thick, raised scar), Nail dysplasia (Small, narrowed, angled or missing nails). […] Some degree of the following conditions may also be associated with TS: re-curring middle ear infections, hearing loss, distinctive heart, liver, and kidney abnormalities, autoimmune disorders, such as underactive thyroid and celiac disease, difficulty with nonverbal communication skills, spatial relationships, such as driving or riding a bike, and executive functions.
  • #164 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #165 What is Turner Syndrome?
    https://www.turnersyndrome.org/ts-overview
    Some degree of the following conditions may be associated with TS: Short Stature, Receding Jaw, Narrow Roof of the Mouth, Knees Turn Inward, Short 4th toe, Broad chest, Forearm angled out from body, Short Neck due to underdeveloped spine, Low Hairline, Skin folds (webbing) running down the neck to the shoulders, Lymphedema (Swelling due to build-up of fluid), Keloid scarring (Thick, raised scar), Nail dysplasia (Small, narrowed, angled or missing nails). […] Some degree of the following conditions may also be associated with TS: re-curring middle ear infections, hearing loss, distinctive heart, liver, and kidney abnormalities, autoimmune disorders, such as underactive thyroid and celiac disease, difficulty with nonverbal communication skills, spatial relationships, such as driving or riding a bike, and executive functions.
  • #166
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    There are many other symptoms or characteristics that can affect girls and women with Turner syndrome. […] Most girls with Turner syndrome have good language and reading skills. However, some have behavioural, social and specific learning difficulties. […] Typically, girls with Turner syndrome will go through a phase in childhood that involves: physical overactivity, such as constant fidgeting and restlessness; acting impulsively, such as breaking rules or having no sense of danger; having a short attention span and being easily distracted. […] The physical hyperactivity usually reduces around the time the girl starts secondary school at 11 years of age, although problems with inattention can last longer, into the teens.
  • #167
    https://111.wales.nhs.uk/encyclopaedia/t/article/turnersyndrome
    There are many other symptoms or characteristics that can affect girls and women with Turner syndrome. General features include a particularly short, wide neck (webbed neck), a broad chest and widely spaced nipples, arms that turn out slightly at the elbows, a low hairline, teeth problems, a large number of moles, small, spoon-shaped nails, and a short 4th finger or toe. […] Turner syndrome is often associated with a number of other health conditions, including heart murmur, kidney and urinary tract problems, underactive thyroid gland (hypothyroidism), high blood pressure (hypertension), osteoporosis (brittle bones), scoliosis (abnormal curvature of the spine), diabetes, obesity, lymphoedema, bleeding in the digestive system, and other digestive conditions. […] Most girls with Turner syndrome have good language and reading skills. However, some have behavioural, social and specific learning difficulties. Some girls with Turner syndrome have problems understanding social relationships, which can make it difficult to sustain friendships and leads to relationship problems in later life. Most females with Turner syndrome have difficulty understanding spatial relationships, which may cause problems when learning to drive or following directions on a map.
  • #168 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include: Slowed growth, No growth spurts at expected times in childhood, Adult height significantly less than might be expected for a female member of the family, Failure to begin sexual changes expected during puberty, Sexual development that „stalls” during teenage years, Early end to menstrual cycles not due to pregnancy, For most females with Turner syndrome, inability to conceive a child without fertility treatment.
  • #169
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    Almost all girls with Turner syndrome will grow up to be shorter than average, with underdeveloped ovaries. […] Girls with Turner syndrome also have distinctive features and associated health conditions, some of which may be apparent from birth. […] They may be born with swollen hands and feet, caused by a build-up of excess fluid (lymphoedema) in the surrounding tissues, but this usually clears soon after birth. […] At puberty, usually between 8 and 14 years, a girl with Turner syndrome will not have the normal growth spurt, even with female oestrogen hormone replacement therapy (HRT). […] Girls with Turner syndrome are typically short in relation to the height of their parents. On average, adult women with untreated Turner syndrome are 20cm shorter than adult women without the syndrome.
  • #170 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #171 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include: Slowed growth, No growth spurts at expected times in childhood, Adult height significantly less than might be expected for a female member of the family, Failure to begin sexual changes expected during puberty, Sexual development that „stalls” during teenage years, Early end to menstrual cycles not due to pregnancy, For most females with Turner syndrome, inability to conceive a child without fertility treatment.
  • #172
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    Most girls with Turner syndrome do not produce enough of these sex hormones, which means: they may not begin sexual development or fully develop breasts without female hormone replacement therapy (HRT); they may begin sexual development but not complete it; they may not start their monthly periods naturally; it’s likely they’ll need help to have a baby. […] Even though many women with Turner syndrome have undeveloped ovaries and are infertile, their vagina and womb develop normally. […] Most girls need hormone replacement therapy (HRT) with oestrogen from around 10 to 12 years of age to begin breast development, and about 3 years later with added progesterone to bring on monthly periods. […] A minority of girls with Turner syndrome experience some physical changes naturally during puberty, but only a very small number become pregnant naturally.
  • #173 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include: Slowed growth, No growth spurts at expected times in childhood, Adult height significantly less than might be expected for a female member of the family, Failure to begin sexual changes expected during puberty, Sexual development that „stalls” during teenage years, Early end to menstrual cycles not due to pregnancy, For most females with Turner syndrome, inability to conceive a child without fertility treatment.
  • #174
    https://www.nhs.uk/conditions/turner-syndrome/symptoms/
    Most girls with Turner syndrome do not produce enough of these sex hormones, which means: they may not begin sexual development or fully develop breasts without female hormone replacement therapy (HRT); they may begin sexual development but not complete it; they may not start their monthly periods naturally; it’s likely they’ll need help to have a baby. […] Even though many women with Turner syndrome have undeveloped ovaries and are infertile, their vagina and womb develop normally. […] Most girls need hormone replacement therapy (HRT) with oestrogen from around 10 to 12 years of age to begin breast development, and about 3 years later with added progesterone to bring on monthly periods. […] A minority of girls with Turner syndrome experience some physical changes naturally during puberty, but only a very small number become pregnant naturally.
  • #175 Turner syndrome – Symptoms & causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
    The most common signs in almost all girls, teenagers and young women with Turner syndrome are short stature and ovarian insufficiency due to ovarian failure. Failure of the ovaries to develop may occur at birth or gradually during childhood, the teen years or young adulthood. Signs and symptoms of these include: Slowed growth, No growth spurts at expected times in childhood, Adult height significantly less than might be expected for a female member of the family, Failure to begin sexual changes expected during puberty, Sexual development that „stalls” during teenage years, Early end to menstrual cycles not due to pregnancy, For most females with Turner syndrome, inability to conceive a child without fertility treatment.
  • #176 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #177 Turner Syndrome: Symptoms and Treatment | Doctor
    https://patient.info/doctor/turner-syndrome-pro
    Clinical features by age include: Newborn infants: may be recognised because they are often borderline small for dates, have lymphoedema of the hands and feet and excessive skin at the nape of the neck, and cardiac abnormalities (eg, coarctation of aorta, pulmonary stenosis, aortic stenosis, bicuspid aortic valve). […] Infancy: length usually close to and parallel to the 3rd centile, feeding difficulties with poor weight gain, poor sleeping pattern. […] Preschool: short stature (height velocity usually low or normal), high activity levels, behavioural difficulties with exaggerated fearfulness, recurrent middle ear infections (otitis media with effusion, conductive hearing loss), sensorineural deafness. […] Older children: height gradually falls away from the 3rd centile, gonadal dysgenesis, middle ear disease, obesity, specific learning difficulties, social vulnerability (social problems, immaturity, less social activity), foot problems (eg, toenail involution, cellulitis), renal anomalies.
  • #178 Turner’s syndrome | Better Health Channel
    https://www.betterhealth.vic.gov.au/health/conditionsandtreatments/turners-syndrome
    Turners syndrome is a random genetic disorder that affects females. The main characteristics include short stature and infertility. The most significant features of Turners syndrome include short stature average adult height is 143 cm (4 8), infertility due to underdeveloped ovaries, congenital heart defects in about 50 per cent of affected women, spatial awareness issues problems with tasks such as maths, absence of menstruation (amenorrhoea), and hearing problems. Turners syndrome is a lifelong condition. However, many treatment options are available to help affected girls and women reach their potential in all aspects of life. Treatment aims to correct any physical defects and help bring about puberty. […] Infertility is caused by the failure of the ovaries to grow properly they then undergo a premature menopause. There may be some eggs present at birth, but these degenerate soon after. Only around five to 10 per cent of girls with Turners syndrome menstruate naturally and the rest need hormone replacement therapy.
  • #179 Turner syndrome – Wikipedia
    https://en.wikipedia.org/wiki/Turner_syndrome
    Turner syndrome is associated with a number of physical features, including short stature, heart defects, webbed neck, micrognathia, amenorrhoea, and infertility. […] Signs and symptoms vary among those affected but often include additional skin folds on the neck, arched palate, low-set ears, low hairline at the nape of the neck, short stature, and lymphedema of the hands and feet. […] Heart defects, Type II diabetes, and hypothyroidism occur in the disorder more frequently than average. […] Turner syndrome is associated with short stature. The mean adult height of women with Turner syndrome without growth hormone therapy is around 20 cm (8 in) shorter than the mean of women in the general population. […] Growth delay in Turner syndrome does not begin at birth; most neonates with the condition have a birth weight in the lower end of the normal range. Height begins to lag in toddlerhood, with a delayed growth velocity becoming apparent as early as 18 months. Marked short stature becomes obvious in mid-childhood.
  • #180 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #181 Turner Syndrome (Monosomy X): Causes, Symptoms, and More
    https://www.healthline.com/health/turner-syndrome
    If Turner syndrome is not treated earlier, or if a person is living with a severe form of it, some of the symptoms in adulthood can include: irregularities in menstrual cycle, hearing issues, heart issues, small stature. […] While Turner syndrome can have some significant symptoms, including delayed puberty and smaller stature, early treatment can help people living with this condition lead a healthy, happy life. Recurring check-ins with ones healthcare team can also help keep symptoms in check.
  • #182 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #183 About Turner Syndrome
    https://www.genome.gov/Genetic-Disorders/Turner-Syndrome
    Turner syndrome is a chromosomal condition that alters development in females. Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who have Turner syndrome include: extra skin on the neck (webbed neck), puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, heart defects and kidney problems. […] Girls who have Turner syndrome are shorter than average. They often have normal height for the first three years of life, but then have a slow growth rate. At puberty they do not have the usual growth spurt. Non-functioning ovaries are another symptom of Turner syndrome. Normally a girl’s ovaries begin to produce sex hormones (estrogen and progesterone) at puberty. This does not happen in most girls who have Turner syndrome. They do not start their periods or develop breasts without hormone treatment at the age of puberty.
  • #184 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #185 Turner Syndrome (Monosomy X): Causes, Symptoms, and More
    https://www.healthline.com/health/turner-syndrome
    If Turner syndrome is not treated earlier, or if a person is living with a severe form of it, some of the symptoms in adulthood can include: irregularities in menstrual cycle, hearing issues, heart issues, small stature. […] While Turner syndrome can have some significant symptoms, including delayed puberty and smaller stature, early treatment can help people living with this condition lead a healthy, happy life. Recurring check-ins with ones healthcare team can also help keep symptoms in check.
  • #186 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #187 Turner Syndrome (Monosomy X): Causes, Symptoms, and More
    https://www.healthline.com/health/turner-syndrome
    If Turner syndrome is not treated earlier, or if a person is living with a severe form of it, some of the symptoms in adulthood can include: irregularities in menstrual cycle, hearing issues, heart issues, small stature. […] While Turner syndrome can have some significant symptoms, including delayed puberty and smaller stature, early treatment can help people living with this condition lead a healthy, happy life. Recurring check-ins with ones healthcare team can also help keep symptoms in check.
  • #188 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #189 Turner Syndrome: Symptoms and Treatment | Doctor
    https://patient.info/doctor/turner-syndrome-pro
    Adolescence: impaired pubertal growth spurt (even with oestrogen induction), ovarian failure (absent/incomplete puberty), obesity, hypertension, increased prevalence of immune disorders (eg, autoimmune thyroiditis, coeliac disease, inflammatory bowel disease), specific learning difficulties, social vulnerability, foot problems. […] Adulthood: infertility, obesity, hypertension, aortic dilatation/dissection, autoimmune thyroiditis, osteoporosis, visuospatial difficulties, sensorineural deafness. […] Patients are usually shorter than average (even with growth hormone therapy) and almost all are infertile (although assisted fertility may be successful). […] The mortality rate is three times greater than the general population due to complications from cardiovascular disease such as coronary heart disease and stroke. Congenital aortic aneurysm, pneumonia, diabetes, epilepsy, liver disease, and kidney disease are also responsible for an increase in mortality.
  • #190 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #191 About Turner Syndrome
    https://www.genome.gov/Genetic-Disorders/Turner-Syndrome
    Additional symptoms of Turner syndrome include the following: An especially wide neck (webbed neck) and a low or indistinct hairline. A broad chest and widely spaced nipples. Arms that turn out slightly at the elbow. A heart murmur, sometimes associated with narrowing of the aorta (blood vessel exiting the heart). A tendency to develop high blood pressure (so this should be checked regularly). Minor eye problems that are corrected by glasses. Scoliosis (deformity of the spine) occurs in 10 percent of adolescent girls who have Turner syndrome. The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome. Regular blood tests are necessary to detect it early and if necessary treat with thyroid replacement. Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.
  • #192 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #193 About Turner Syndrome
    https://www.genome.gov/Genetic-Disorders/Turner-Syndrome
    Additional symptoms of Turner syndrome include the following: An especially wide neck (webbed neck) and a low or indistinct hairline. A broad chest and widely spaced nipples. Arms that turn out slightly at the elbow. A heart murmur, sometimes associated with narrowing of the aorta (blood vessel exiting the heart). A tendency to develop high blood pressure (so this should be checked regularly). Minor eye problems that are corrected by glasses. Scoliosis (deformity of the spine) occurs in 10 percent of adolescent girls who have Turner syndrome. The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome. Regular blood tests are necessary to detect it early and if necessary treat with thyroid replacement. Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.
  • #194 Symptoms – Turner Syndrome Foundation Email EmailEvent Series
    https://turnersyndromefoundation.org/about-ts/symptoms/?srsltid=AfmBOooeeakWVKedNuqObDD904Oc1tR6Te9rXTl1iRJKc1IyDXmoknLs
    Physical features, such as height and broad shield chest are more common physical features, along with clinical issues of frequent ear infections, learning challenges, and delayed onset of puberty. […] These are some of the possible common indications or symptoms found in girls and women with Turner Syndrome. […] Unlike other syndromes, TS may be difficult to recognize. It takes highly observant caregivers and providers to connect symptoms that can lead to a diagnosis of Turner Syndrome. […] Every person will be affected uniquely with only some of the symptoms. […] Possible indications during stages of development: Infants: small size, puffy hands and feet, extra neck skin folds, heart abnormalities, feeding difficulties […] Children: small size in relation to peers, below the “normal” growth chart for both height and weight, ear infections, hearing problems, learning difficulties […] Teens: small stature, delayed puberty with no breast tissue development or menses, social issues […] Adults: small stature, menstrual cycle irregularities, infertility, hearing issues, heart problems, hypertension, hypothyroidism, type II diabetes, osteoporosis.
  • #195 About Turner Syndrome
    https://www.genome.gov/Genetic-Disorders/Turner-Syndrome
    Additional symptoms of Turner syndrome include the following: An especially wide neck (webbed neck) and a low or indistinct hairline. A broad chest and widely spaced nipples. Arms that turn out slightly at the elbow. A heart murmur, sometimes associated with narrowing of the aorta (blood vessel exiting the heart). A tendency to develop high blood pressure (so this should be checked regularly). Minor eye problems that are corrected by glasses. Scoliosis (deformity of the spine) occurs in 10 percent of adolescent girls who have Turner syndrome. The thyroid gland becomes under-active in about 10 percent of women who have Turner syndrome. Regular blood tests are necessary to detect it early and if necessary treat with thyroid replacement. Older or over-weight women with Turner syndrome are slightly more at risk of developing diabetes. Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.
  • #196 Turner Syndrome – StatPearls – NCBI Bookshelf
    https://www.ncbi.nlm.nih.gov/books/NBK554621/
    Renal anomalies are common in Turner syndrome and include collecting system malformations, positional abnormalities, and horseshoe kidneys. […] Turner syndrome increases the risk of autoimmune disorders, including hypothyroidism, celiac disease, and inflammatory bowel disease. Due to the presence of dysgenic gonads, females with Turner syndrome are at an increased risk of developing gonadoblastoma. […] Patients with Turner syndrome have an increased mortality rate, three times greater than the general population. Cardiovascular disease due to coronary heart disease and stroke in older patients is a significant factor. Of the congenital cardiovascular disease, an aortic aneurysm is the largest cause. Patients also demonstrate an increase in mortality due to pneumonia, diabetes, epilepsy, liver disease, and kidney disease.
  • #197 Turner Syndrome: What It Is, Causes, Symptoms & Treatment
    https://my.clevelandclinic.org/health/diseases/15200-turner-syndrome
    Turner syndrome presents in many ways. It can cause several different characteristics or features as well as certain health conditions, which can vary in severity. Depending on the type of TS, signs of the syndrome may be apparent: Before birth. Shortly after birth. In early childhood. In early adolescence. In adulthood. […] People with Turner syndrome are at an increased risk of also having certain health conditions. But not everyone with TS will develop them. […] The life expectancy for people with Turner syndrome might be slightly shorter. But by testing for and treating the health conditions that can come with TS, people with TS can expect to have a typical lifespan.
  • #198 Turner Syndrome: Practice Essentials, Background, Pathophysiology
    https://emedicine.medscape.com/article/949681-overview
    Overall prognosis for patients with Turner syndrome is good. Even with growth hormone therapy, most individuals are shorter than average. Turner syndrome is not a cause of intellectual disability. They are more likely to be employed than other adult women. Life expectancy is slightly shorter than average but may be improved by attention to associated chronic illnesses, such as obesity and hypertension. Almost all individuals are infertile, but pregnancy with donor embryos is possible.
  • #199 Mosaic Turner Syndrome: What It Is and How It’s Treated
    https://www.healthline.com/health/childrens-health/mosaic-turner-syndrome
    Turner syndrome is a chromosomal condition involving a persons sex chromosomes. […] In mosaic Turner syndrome, an X chromosome is missing in some cells in people assigned female at birth. […] Because so much genetic information is missing at such an early stage of development, Turner syndrome can cause a variety of medical and developmental concerns, including failure of the ovaries to develop, heart defects, and short height. […] In general, symptoms for people with mosaic Turner syndrome tend to be less severe than symptoms for people with complete Turner syndrome. This is because the number of cells that are affected by the missing or deficient X chromosome is fewer with mosaicism. […] Symptoms may vary greatly between people with mosaic Turner syndrome. Some people may not even realize they have this condition until puberty or later in life.
  • #200 Mosaic Turner Syndrome: What It Is and How It’s Treated
    https://www.healthline.com/health/childrens-health/mosaic-turner-syndrome
    Symptoms may include: short height, amenorrhea, or missed menstrual periods, infertility from ovary issues, congenital heart disease, like bicuspid aortic valve, difficulties with spatial awareness, hearing issues from repeat ear infections. […] In addition to these symptoms, a person with mosaic Turner syndrome may have certain physical characteristics, including: low hairline on the back of the head, narrow upturned fingernails, webbing skin on the neck, broad shield chest with wide-set nipples, puffy hands and feet (lymphedema), pigmented moles (nevi). […] Again, these symptoms may be milder than people experience with complete Turner syndrome. […] Symptoms of mosaic Turner syndrome tend to be milder than those of complete Turner syndrome. As a result, people with this condition may lead relatively healthy lives. […] Early diagnosis and treatment can help with growth and development issues before and during puberty. That said, not all people with mosaic Turner syndrome will have delays in their development. Or if they do, these issues may only be minor.
  • #201 The basics about mosaic Turner syndrome
    https://www.massgeneral.org/children/turner-syndrome/the-basics-about-mosaic-turner-syndrome
    Turner syndrome (TS) is a rare genetic condition in which a girl or woman doesnt have the usual pair of 2 X chromosomes. The cause is a missing or incomplete X chromosome (the chromosome that determines a persons sex before birth). The missing gene prevents the body from growing and developing normally. […] Signs of Turner syndrome and Mosaic Turner syndrome can be similar: Height usually under 5 feet, Droopy (heavy) eyelids (ptosis), Differences in ear shape and position, Webbed neck (extra skin), Arms or feet that are puffy (lymphedema), Often, broad chest, High-arched roof of the mouth, Teeth that are crowded, Trouble with certain types of math, Learning difficulties in school, Reduced fertility, Delayed or absent periods. […] Women and girls with Mosaic TS tend to have fewer signs and health problems than those with typical TS. This is because only some cells are missing the second X chromosome in Mosaic TS. In typical TS, all of the cells in the body are missing the second X chromosome.
  • #202 Mosaic Turner Syndrome: What It Is and How It’s Treated
    https://www.healthline.com/health/childrens-health/mosaic-turner-syndrome
    Turner syndrome is a chromosomal condition involving a persons sex chromosomes. […] In mosaic Turner syndrome, an X chromosome is missing in some cells in people assigned female at birth. […] Because so much genetic information is missing at such an early stage of development, Turner syndrome can cause a variety of medical and developmental concerns, including failure of the ovaries to develop, heart defects, and short height. […] In general, symptoms for people with mosaic Turner syndrome tend to be less severe than symptoms for people with complete Turner syndrome. This is because the number of cells that are affected by the missing or deficient X chromosome is fewer with mosaicism. […] Symptoms may vary greatly between people with mosaic Turner syndrome. Some people may not even realize they have this condition until puberty or later in life.
  • #203 The basics about mosaic Turner syndrome
    https://www.massgeneral.org/children/turner-syndrome/the-basics-about-mosaic-turner-syndrome
    Turner syndrome (TS) is a rare genetic condition in which a girl or woman doesnt have the usual pair of 2 X chromosomes. The cause is a missing or incomplete X chromosome (the chromosome that determines a persons sex before birth). The missing gene prevents the body from growing and developing normally. […] Signs of Turner syndrome and Mosaic Turner syndrome can be similar: Height usually under 5 feet, Droopy (heavy) eyelids (ptosis), Differences in ear shape and position, Webbed neck (extra skin), Arms or feet that are puffy (lymphedema), Often, broad chest, High-arched roof of the mouth, Teeth that are crowded, Trouble with certain types of math, Learning difficulties in school, Reduced fertility, Delayed or absent periods. […] Women and girls with Mosaic TS tend to have fewer signs and health problems than those with typical TS. This is because only some cells are missing the second X chromosome in Mosaic TS. In typical TS, all of the cells in the body are missing the second X chromosome.
  • #204 Mosaic Turner Syndrome: What It Is and How It’s Treated
    https://www.healthline.com/health/childrens-health/mosaic-turner-syndrome
    Turner syndrome is a chromosomal condition involving a persons sex chromosomes. […] In mosaic Turner syndrome, an X chromosome is missing in some cells in people assigned female at birth. […] Because so much genetic information is missing at such an early stage of development, Turner syndrome can cause a variety of medical and developmental concerns, including failure of the ovaries to develop, heart defects, and short height. […] In general, symptoms for people with mosaic Turner syndrome tend to be less severe than symptoms for people with complete Turner syndrome. This is because the number of cells that are affected by the missing or deficient X chromosome is fewer with mosaicism. […] Symptoms may vary greatly between people with mosaic Turner syndrome. Some people may not even realize they have this condition until puberty or later in life.
  • #205 Turner syndrome | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/turner-syndrome?lang=us
    Turner syndrome, also known as 45XO or 45X, is the most common of the sex chromosome abnormalities in females. […] In adults, Turner syndrome is one of the most important causes of primary amenorrhea and accounts for approximately one-third of such cases. The associated ovarian dysgenesis typically leads to absence of secondary sex characteristics. Intellectual development is unaffected in Turner syndrome. […] The prognosis of Turner syndrome is highly variable depending on the presenting associated anomalies. While the vast majority of fetuses are aborted in the second trimester, others may have a long life expectancy. Premature death is commonly due to associated cardiovascular disease. […] Patients displaying genetic mosaicism tend to have a more favorable prognosis.
  • #206 Late to Diagnosis: Turner Syndrome | Children’s Hospital of Philadelphia
    https://www.chop.edu/news/late-diagnosis-turner-syndrome
    A 9-year-old girl presents for annual well visit. Mother expresses a concern for her daughter’s short stature. By mother’s report, the girl has always been petite and is the shortest in her class. […] Physical examination reveals she is well appearing though short for age. Height is 2.5th percentile, and weight is 30th percentile. She is prepubertal. […] The most common features of Turner syndrome include significant short stature, gonadal dysgenesis and ovarian failure leading to lack of or incomplete puberty, cardiac anomalies, and renal anomalies. […] Mosaicism can occur, leading to a milder presentation and often making recognition of the condition more difficult. Patients with mosaicism may have less significant short stature and may experience spontaneous pubertal onset but may not have enough ovarian function to complete the pubertal process. In such cases, failure to progress completely through the puberty process and achieve menarche often leads to medical attention.
  • #207 Mosaic Turner Syndrome: What It Is and How It’s Treated
    https://www.healthline.com/health/childrens-health/mosaic-turner-syndrome
    Symptoms may include: short height, amenorrhea, or missed menstrual periods, infertility from ovary issues, congenital heart disease, like bicuspid aortic valve, difficulties with spatial awareness, hearing issues from repeat ear infections. […] In addition to these symptoms, a person with mosaic Turner syndrome may have certain physical characteristics, including: low hairline on the back of the head, narrow upturned fingernails, webbing skin on the neck, broad shield chest with wide-set nipples, puffy hands and feet (lymphedema), pigmented moles (nevi). […] Again, these symptoms may be milder than people experience with complete Turner syndrome. […] Symptoms of mosaic Turner syndrome tend to be milder than those of complete Turner syndrome. As a result, people with this condition may lead relatively healthy lives. […] Early diagnosis and treatment can help with growth and development issues before and during puberty. That said, not all people with mosaic Turner syndrome will have delays in their development. Or if they do, these issues may only be minor.
  • #208 Turner syndrome | Radiology Reference Article | Radiopaedia.org
    https://radiopaedia.org/articles/turner-syndrome?lang=us
    Turner syndrome, also known as 45XO or 45X, is the most common of the sex chromosome abnormalities in females. […] In adults, Turner syndrome is one of the most important causes of primary amenorrhea and accounts for approximately one-third of such cases. The associated ovarian dysgenesis typically leads to absence of secondary sex characteristics. Intellectual development is unaffected in Turner syndrome. […] The prognosis of Turner syndrome is highly variable depending on the presenting associated anomalies. While the vast majority of fetuses are aborted in the second trimester, others may have a long life expectancy. Premature death is commonly due to associated cardiovascular disease. […] Patients displaying genetic mosaicism tend to have a more favorable prognosis.
  • #209 Mosaic Turner Syndrome: What It Is and How It’s Treated
    https://www.healthline.com/health/childrens-health/mosaic-turner-syndrome
    Symptoms may include: short height, amenorrhea, or missed menstrual periods, infertility from ovary issues, congenital heart disease, like bicuspid aortic valve, difficulties with spatial awareness, hearing issues from repeat ear infections. […] In addition to these symptoms, a person with mosaic Turner syndrome may have certain physical characteristics, including: low hairline on the back of the head, narrow upturned fingernails, webbing skin on the neck, broad shield chest with wide-set nipples, puffy hands and feet (lymphedema), pigmented moles (nevi). […] Again, these symptoms may be milder than people experience with complete Turner syndrome. […] Symptoms of mosaic Turner syndrome tend to be milder than those of complete Turner syndrome. As a result, people with this condition may lead relatively healthy lives. […] Early diagnosis and treatment can help with growth and development issues before and during puberty. That said, not all people with mosaic Turner syndrome will have delays in their development. Or if they do, these issues may only be minor.