Nietypowe genitalia
Charakterystyka, pielęgnacja i opieka

Nietypowe genitalia (atypical genitalia), dawniej określane jako niejednoznaczne genitalia, to rzadki stan rozwojowy (DSD), występujący u około 1 na 4500 noworodków, charakteryzujący się niejednoznacznym fenotypem zewnętrznych narządów płciowych, który może nie odpowiadać płci genetycznej lub wewnętrznym narządom płciowym. Najczęstszą przyczyną jest wrodzony przerost nadnerczy (CAH) u pacjentów z kariotypem 46XX, szczególnie u noworodków z wirylizacją i niewyczuwalnymi gonadami. Diagnostyka powinna być podjęta w pierwszym tygodniu życia, obejmując badania hormonalne, genetyczne i obrazowe, z uwzględnieniem ryzyka niewydolności nadnerczy i hipoglikemii. Wczesne rozpoznanie i wielospecjalistyczne podejście, obejmujące endokrynologię pediatryczną, genetykę, chirurgię oraz wsparcie psychologiczne, są kluczowe dla optymalnego zarządzania i planowania przypisania płci.

Nietypowe genitalia – definicja i charakterystyka

Nietypowe genitalia (atypical genitalia), dawniej znane jako niejednoznaczne genitalia (ambiguous genitalia), to rzadki stan, w którym zewnętrzne narządy płciowe noworodka nie wyglądają jednoznacznie męsko lub żeńsko. Narządy płciowe mogą być niedostatecznie rozwinięte lub dziecko może posiadać cechy więcej niż jednej płci.12 Nietypowe genitalia nie są chorobą, lecz różnicą w rozwoju płciowym (DSD – differences of sex development).34 Stan ten dotyka około 1 na 4500 noworodków.5

Nietypowe genitalia zwykle są diagnozowane przy urodzeniu lub krótko po nim. Niemowlęta z nietypowymi narządami płciowymi mogą mieć zewnętrzne narządy płciowe, które nie pasują do ich wewnętrznych narządów płciowych lub płci genetycznej.67 Ten stan może objawiać się w różny sposób, w zależności od tego, które chromosomy płciowe zostały dotknięte.8

Przyczyny nietypowych genitalii

Nietypowe genitalia zwykle powstają, gdy zmiany hormonalne podczas ciąży zatrzymują lub zakłócają rozwój narządów płciowych nienarodzonego dziecka.910 W wielu przypadkach lekarze nie są w stanie określić dokładnej przyczyny – wydaje się, że występują one przypadkowo.1112

Najczęstszą przyczyną nietypowych genitaliów jest wrodzony przerost nadnerczy (CAH) u osób z chromosomami 46XX.1314 CAH powinien być głównym podejrzeniem u każdego noworodka z wirylizacją i niewyczuwalnymi gonadami.15

Nietypowe genitalia mogą wynikać z wielu różnych czynników genetycznych i środowiskowych, które wpływają na rozwijające się dziecko.16 Dzieci urodzone z nietypowymi genitaliami mogą należeć do kilku różnych grup diagnostycznych, w zależności od przyczyny rozwojowej.1718

Diagnostyka nietypowych genitalii

Początkowe postępowanie w przypadku noworodka z nietypowymi genitaliami jest uznawane za nagły przypadek zarówno społeczny, jak i kliniczny.1920 Jeśli dziecko rodzi się z nietypowymi genitaliami, lekarze i inni pracownicy służby zdrowia pracują nad znalezieniem przyczyny.21

Diagnoza nietypowych genitaliów zwykle następuje po zauważeniu przez lekarzy i pielęgniarki asystujących przy porodzie cech takich jak:22

  • Rozszczepione moszna
  • Obustronnie niezstąpione jądra
  • Powiększona łechtaczka (clitoromegaly)
  • Mikropenis
  • Proksymalna spodziectwo
  • Dystalne lub środkowe spodziectwo w połączeniu z którąkolwiek z powyższych cech

23

Badania diagnostyczne powinny być rozpoczęte w momencie prezentacji i w pierwszym tygodniu życia noworodka.24 Dziecko z nietypowymi genitaliami potencjalnie jest zagrożone niewydolnością nadnerczy, dlatego wymaga monitorowania w kierunku hipoglikemii i niewydolności nadnerczy.25

Postępowanie diagnostyczne

Pierwszy krok w postępowaniu z nietypowymi genitaliami polega na zidentyfikowaniu przyczyny. Następnie zespół medyczny dziecka, w porozumieniu z rodzicami, opracowuje plan leczenia i przypisania płci w oparciu o wyniki testów hormonalnych i innych badań.26

Badania endokrynologiczne są kluczowe, ponieważ niektóre dzieci z nietypowymi genitaliami, na przykład te z CAH, mają dodatkowe wymagania dotyczące ciągłej terapii medycznej.27

Podejście multidyscyplinarne jest niezbędne, z wczesną konsultacją z zespołem specjalistycznym posiadającym doświadczenie w endokrynologii pediatrycznej, genetyce i chirurgii, wraz z odpowiednim wsparciem psychiatrycznym/psychologicznym.28

Leczenie nietypowych genitalii

Celem leczenia jest długoterminowe zdrowie psychiczne i dobre samopoczucie społeczne, a także umożliwienie jak największej funkcji seksualnej i płodności.2930 Kiedy rozpocząć leczenie, zależy od konkretnej sytuacji dziecka.31

Leczenie nietypowych genitaliów wymaga zespołu ekspertów, takich jak pediatrzy, neonatolodzy, urolodzy dziecięcy, chirurdzy ogólni dziecięcy, endokrynolodzy, genetycy, psychologowie i pracownicy socjalni.32

Opcje terapeutyczne

Opcje leczenia mogą obejmować:33

  • Terapię hormonalną zastępczą (HRT): Sama terapia hormonalna może pomóc w leczeniu zaburzeń równowagi hormonalnej. Leki hormonalne mogą pomóc w skorygowaniu lub kompensacji zaburzeń równowagi hormonalnej.34
  • Chirurgię rekonstrukcyjną: Zespół medyczny dziecka, w porozumieniu z rodzicami, może zasugerować operację, gdy dziecko jest jeszcze niemowlęciem. Zabieg rekonstrukcyjny nietypowych genitaliów jest jednak kontrowersyjny.35

U dzieci z nietypowymi genitaliami operacja może być stosowana w celu zachowania zdrowej funkcji seksualnej i stworzenia genitaliów, które wyglądają bardziej typowo.3637 Termin operacji będzie zależał od konkretnej sytuacji dziecka. Niektórzy lekarze wolą odłożyć operację, dopóki dziecko nie będzie wystarczająco dojrzałe, aby uczestniczyć w decyzji dotyczącej przypisania płci.38

Wiele organizacji i autorytetów medycznych zaleca obecnie opóźnianie ostatecznej operacji tak długo, jak jest to zdrowe, oraz idealne angażowanie dziecka w proces decyzyjny, chyba że operacja jest konieczna dla zdrowia niemowlęcia.3940

Kontrowersje wokół wczesnej interwencji chirurgicznej

Istnieje wiele kontrowersji dotyczących optymalnego czasu interwencji chirurgicznej.41 Organizacje wielokrotnie stwierdzały, że dane są niewystarczające, aby uznać procedury DSD za konieczne, korzystne lub bezpieczne.42

Wymieniane szkody, które mogą mieć znaczące implikacje, gdy dziecko dorasta, obejmują płeć przypisaną przy urodzeniu, która nie jest zgodna z ostateczną tożsamością płciową osoby, oraz powikłania chirurgiczne, które wpływają na funkcjonowanie seksualne.43

Najnowsze i najbardziej rygorystyczne badania oceniające długoterminowe wyniki pacjentów z DSD porównują duże próbki osób, które przeszły i nie przeszły interwencji chirurgicznych. Wyniki te wspierają odroczenie interwencji, ponieważ osoby z DSD były bardziej skłonne do zmiany przypisanej płci niż ogólna populacja.44

Opieka psychologiczna i społeczna

Nietypowe genitalia mogą mieć głęboki wpływ fizyczny, społeczny i psychologiczny na dziecko.45 Diagnoza nietypowych genitaliów u noworodka może być bardzo stresująca dla rodziców i rodziny.46

Komunikacja i wsparcie dla rodzin

Gdy rodzi się dziecko z nietypowymi genitaliami i istnieje niepewność co do płci dziecka, należy wyjaśnić rodzicom, że nie jest możliwe określenie, czy ich niemowlę jest dziewczynką czy chłopcem.47 Rodzinom należy dostarczyć jak najwięcej informacji.48

Pierwsze rozmowy z rodziną muszą ustanowić pozytywny ton, w którym nowi rodzice będą szanowani i przeprowadzani przez cały proces.49 Jasna i otwarta komunikacja jest niezbędna.50

Wsparcie psychologiczne powinno być oferowane rodzicom każdego noworodka, którego przypisanie płci jest opóźnione.51 Rodzice muszą być zaangażowani i czuć się włączeni w podejmowanie decyzji.52

Długoterminowe wsparcie i opieka

Dzieci z nietypowymi genitaliami potrzebują ciągłej opieki medycznej. Obejmuje to obserwację pod kątem powikłań, takich jak badania przesiewowe w kierunku nowotworów w dorosłym życiu.5354

Specjaliści ds. zdrowia psychicznego mogą pomóc rodzicom poradzić sobie z tą niespodziewaną różnicą.55 Dziecko może znaleźć pomocne ciągłe poradnictwo przez specjalistów zdrowia psychicznego i może zdecydować się na uczestnictwo w grupach wsparcia w dorosłym życiu.5657

Rodzinom i pacjentom zaleca się również korzystanie z grup wsparcia DSD, które mogą pomóc udostępnić najnowsze badania i zaoferować społeczność innych rodzin, dzieci i dorosłych, którzy stanęli w obliczu tych samych problemów.58

Ujawnienie pacjentowi diagnozy jest zwykle podejmowane w środkowej lub późnej fazie dojrzewania, gdy ma on zdolność do zrozumienia złożonych kwestii, takich jak chromosomy, hormony itp., oraz posiada pewien stopień dojrzałości emocjonalnej.59

Podejście multidyscyplinarne w leczeniu nietypowych genitaliów

Nietypowe genitalia są złożone i nieczęste. Zarządzanie nimi może wymagać zespołu ekspertów.6061

Podejście multidyscyplinarne, z jasną komunikacją z rodziną, jest niezbędne. Noworodki prezentujące nietypowe genitalia powinny być skierowane do endokrynologii pediatrycznej, chirurgii pediatrycznej i, w razie potrzeby, ginekologii pediatrycznej, w celu planowania badań.62

Skład zespołu multidyscyplinarnego

Zespół multidyscyplinarny zajmujący się nietypowymi genitaliami może obejmować:6364

  • Pediatrycznych urologów
  • Pediatrycznych endokrynologów
  • Genetyków
  • Ginekologów
  • Neonatologów
  • Psychologów
  • Psychiatrów
  • Pracowników socjalnych

Współpraca między tymi specjalistami jest kluczowa dla zapewnienia kompleksowej oceny, opieki medycznej i chirurgicznej, poradnictwa psychologicznego, wsparcia i edukacji dla pacjentów i rodzin.65

Zespół medyczny powinien wyjaśnić rodzicom proces określania i różnicowania płci oraz dać im czas na przemyślenie ich wyborów.66 Przypisanie płci nie powinno być pośpieszne i powinno nastąpić dopiero po odpowiednim badaniu w ramach zespołu multidyscyplinarnego.67

Specjalistyczne centra leczenia

Jeśli Twoje dziecko urodzi się z nietypowymi genitaliami, możesz zostać skierowany do centrum medycznego z lekarzami i innymi pracownikami służby zdrowia, którzy mają doświadczenie w zarządzaniu tym stanem.68

Leczenie w centrach doskonałości jest związane z lepszymi wynikami medycznymi, chirurgicznymi i psychoseksualnymi.69 Wiele szpitali dziecięcych oferuje specjalistyczne programy dla dzieci z nietypowymi genitaliami, zapewniające kompleksową opiekę zespołową.70

Płodność i funkcje seksualne u osób z nietypowymi genitaliami

Powikłania nietypowych genitaliów mogą obejmować niepłodność. To, czy osoby z nietypowymi genitaliami mogą mieć dzieci, zależy od konkretnej diagnozy.71

Niektóre dzieci urodzone z nietypowymi genitaliami mogą mieć normalne wewnętrzne narządy płciowe, które pozwalają im żyć normalnie, płodne życie. Ale inne mogą mieć problemy z płodnością jako dorosłe.7273

U dziewcząt z nietypowymi genitaliami narządy płciowe mogą funkcjonować normalnie pomimo nietypowego wyglądu zewnętrznego. Jeśli pochwa dziewczynki jest ukryta pod skórą, operacja w dzieciństwie może pomóc w późniejszej funkcji seksualnej.74

Wyniki operacji są często dobre, ale później mogą być potrzebne powtórne operacje. Ryzyko obejmuje rozczarowujący wynik kosmetyczny lub dysfunkcję seksualną.75

Trudno jest określić oczekiwania seksualne dla dzieci urodzonych z nietypowymi genitaliami. Oprócz tego stanu, na seksualność wpływa również mózg. Ten aspekt nietypowych genitaliów jest trudny do przewidzenia.76

Postępy w leczeniu nietypowych genitalii

Zarządzanie nietypowymi genitaliami zmieniło się z czasem. Obecnie wychowuje się jako mężczyzn wiele dzieci, u których doszło do niedostatecznej wirylizacji 46XY.77

Współczesne zarządzanie koncentruje się na holistycznym podejściu, które angażuje zespoły multidyscyplinarne, w tym endokrynologów, genetyków, urologów, psychologów i etyków, aby kierować rodziny i osoby przez diagnozę i opiekę.78

Wczesna identyfikacja i leczenie zapewniają fizyczny, emocjonalny i psychologiczny dobrostan dziecka, pozwalając mu prowadzić zdrowe i satysfakcjonujące życie.79

Każde dziecko i rodzina będą miały unikalne cechy, więc wszystkie decyzje muszą być podejmowane indywidualnie.80

Kwestie etyczne i prawne

Pomimo stanowiska renomowanych organizacji zdrowotnych i organów ustawodawczych oraz anegdotycznych doniesień o cierpieniu, wokół społeczności medycznej toczy się bitwa dotycząca odroczenia elektivnych interwencji chirurgicznych.81

Wiele osób, u których przeprowadzono te procedury, zgłosiło się jako dorośli, aby podzielić się swoim niezadowoleniem i komplikacjami zdrowotnymi.82

Wspierając te twierdzenia interesariuszy, wiele prominentnych krajowych i międzynarodowych organizacji zdrowotnych i organów ustawodawczych wydało zalecenia argumentujące za odroczeniem elektywnych procedur, dopóki dziecko nie będzie mogło aktywnie uczestniczyć w procesie podejmowania decyzji.83

Niektórzy wzywają klinicystów do uwzględnienia tych powtarzających się wezwań do działania i uznania, że gdy jednostka rodzi się z nietypowymi genitaliami, które nie stanowią fizycznego ryzyka, leczenie powinno koncentrować się nie na interwencji chirurgicznej, ale na wsparciu psychospołecznym i edukacyjnym dla rodziny i dziecka.84

Zalecenia dla rodziców dzieci z nietypowymi genitaliami

Jeśli Twoje dziecko ma nietypowe genitalia, możesz martwić się o jego przyszłość.85 Oto kilka zaleceń, które mogą pomóc w nawigacji przez tę trudną sytuację:

  • Rozważ opóźnienie formalnego ogłoszenia narodzin, dopóki nie zostaną przeprowadzone testy i nie stworzysz planu z poradami Twojego zespołu medycznego.86
  • Twój zespół medyczny dostarczy Ci aktualizacje i informacje tak szybko, jak to możliwe.87
  • Poszukaj długoterminowego wsparcia psychologicznego dla Ciebie i Twojego dziecka.88
  • Zaangażuj się we wczesne decyzje dotyczące przypisania płci Twojego dziecka.89
  • Współpracuj z zespołem opieki zdrowotnej Twojego dziecka, aby pomóc Ci dokonać najlepszych wyborów dla Twojego dziecka.90

Pamiętaj, że z odpowiednią opieką medyczną, chirurgiczną i psychospołeczną, większość dzieci z nietypowymi genitaliami prowadzi zdrowe, normalne życie.91

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  1. 10.04.2026
  2. www.leksykon.com.pl

Materiały źródłowe

  • #1 Atypical genitalia | Beacon Health System
    https://www.beaconhealthsystem.org/library/diseases-and-conditions/atypical-genitalia?content_id=CON-20369257
    In this rare condition, a baby’s genitals are not clearly male or female. […] Atypical genitalia is not a disease; it’s a difference of sex development. […] Your medical team looks for the cause of atypical genitalia and provides information and counseling that can help guide decisions about your baby’s sex and any needed treatment. […] Atypical genitalia usually happen when hormone changes during pregnancy stop or disturb an unborn baby’s developing sex organs. […] If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. The cause helps guide treatment and decisions about your baby’s sex. […] The goal of treatment is long-term mental health and social well-being, as well as having as much sexual function and fertility as possible.
  • #2 Atypical genitalia | Health Library | Memorial Health System
    https://www.mhsystem.org/health-library/con-20369257/
    In this rare condition, a babys genitals are not clearly male or female. Genitals may not be fully developed or the baby may have features of more than one sex. […] Atypical genitalia is not a disease; its a difference of sex development. Usually, atypical genitalia can be seen at or shortly after birth. The condition can be very distressing for families. Your medical team looks for the cause of atypical genitalia and provides information and counseling that can help guide decisions about your babys sex and any needed treatment. […] Atypical genitalia usually happen when hormone changes during pregnancy stop or disturb an unborn babys developing sex organs. […] If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. The cause helps guide treatment and decisions about your babys sex.
  • #3 Atypical genitalia – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/symptoms-causes/syc-20369273
    Atypical genitalia is not a disease; it’s a difference of sex development. […] Your medical team looks for the cause of atypical genitalia and provides information and counseling that can help guide decisions about your baby’s sex and any needed treatment. […] Atypical genitalia usually happen when hormone changes during pregnancy stop or disturb an unborn baby’s developing sex organs. […] Sometimes it’s not possible to find the cause of atypical genitalia. […] If your family has a history of these risk factors, talk with your healthcare professional before trying to get pregnant. Genetic counseling also can help in planning ahead. […] Complications of atypical genitalia may include infertility. Whether people with atypical genitalia can have children depends on the specific diagnosis.
  • #4 Ambiguous Genitalia: Definition & Causes
    https://my.clevelandclinic.org/health/diseases/22470-atypical-genitalia-formerly-known-as-ambiguous-genitalia
    Atypical genitalia, formerly known as ambiguous genitalia, is a rare condition where your newborns external genitals dont look typically male or typically female. […] Treatment includes hormone therapy or surgery. […] Infants with atypical (intersex) genitals may have external genitals that dont match their internal sex organs or genetic sex. Atypical genitalia is a difference of sexual development (DSD). […] The first step of management is to identify the cause of atypical genitalia. Then, your babys healthcare provider will put together a treatment plan and sex assignment based on hormone tests and other test results. […] Treatment options may include: Hormone replacement therapy (HRT): Hormone therapy alone may help treat a hormonal imbalance. […] Reconstructive surgery: Your babys healthcare team, in consultation with you, may suggest surgery while your baby is still an infant. But reconstructive surgery for atypical genitalia is controversial.
  • #5 Atypical Genitalia | Cardinal Glennon
    https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-conditions-we-treat/kidney-urinary-and-genital/atypical-genitalia
    Atypical genitalia, previously known as ambiguous genitalia, is a condition in which a babys external genitals are not typically formed. […] Atypical genitalia falls into a group of conditions known as differences of sexual development (DSDs), which affect approximately 1 in every 4,500 newborns. […] The team at SSM Health Cardinal Glennon St. Louis Fetal Care Institute will also work with your family and the team of pediatric specialists who will care for your baby to prepare for delivery. […] After delivery, specialists from Urology, Endocrinology and Genetics typically assess babies with atypical genitalia in order to assist with assigning the babys sex as well as to look for any associated conditions that might affect the babys overall well-being. […] Our team of specialists will provide more information about potential recommendations for care for your baby after birth. Some individuals with atypical genitalia will need treatments such as hormone therapy or surgery. […] Babies with atypical genitalia are typically stable at birth and able to be delivered normally. […] Our team will perform thorough evaluations and, using that information, work with your family to assign the babys sex.
  • #6 Ambiguous Genitalia: Definition & Causes
    https://my.clevelandclinic.org/health/diseases/22470-atypical-genitalia-formerly-known-as-ambiguous-genitalia
    Atypical genitalia, formerly known as ambiguous genitalia, is a rare condition where your newborns external genitals dont look typically male or typically female. […] Treatment includes hormone therapy or surgery. […] Infants with atypical (intersex) genitals may have external genitals that dont match their internal sex organs or genetic sex. Atypical genitalia is a difference of sexual development (DSD). […] The first step of management is to identify the cause of atypical genitalia. Then, your babys healthcare provider will put together a treatment plan and sex assignment based on hormone tests and other test results. […] Treatment options may include: Hormone replacement therapy (HRT): Hormone therapy alone may help treat a hormonal imbalance. […] Reconstructive surgery: Your babys healthcare team, in consultation with you, may suggest surgery while your baby is still an infant. But reconstructive surgery for atypical genitalia is controversial.
  • #7 Ambiguous genitalia: MedlinePlus Medical EncyclopediaLock
    https://medlineplus.gov/ency/article/003269.htm
    Ambiguous genitalia is a rare condition where a child is born with outer genitals that do not clearly look either male or female. […] This condition is also called uncertain genitalia or atypical genitalia. […] Ambiguous genitalia is common in children with differences of sex development (DSD). […] With a few exceptions, ambiguous genitalia is most often not life-threatening. However, its treatment has short- and long-term consequences. For this reason, a team of health care professionals with expertise in DSD will work together to understand and treat the child and support the family. […] Depending on the cause, surgery, hormone replacement, or other treatments are used to treat conditions that can cause ambiguous genitalia. […] Many experts now urge delaying definitive surgery for as long as is healthy, and ideally involving the child in the decision, unless surgery is needed for the health of the infant. Working with your child’s heath care team can help you make the best choices for your child.
  • #8 What Is Ambiguous Genitalia? Symptoms, Side Effects, and More
    https://www.webmd.com/children/what-is-ambiguous-genitalia
    Ambiguous genitalia, also called uncertain genitalia, atypical genitalia, ambiguous genitalia syndrome, or differences of sex development (DSD), is a condition present at birth. […] Atypical genitalia could look different in every case, depending on which sex chromosomes have been affected. […] Ambiguous genitalia treatment starts by determining the cause of the condition. After they determine the cause, your childs health care provider will help you figure out a treatment plan and a sex assignment. […] Treatment for ambiguous genitalia has many layers. In addition to the factors mentioned above, you should keep your childs emotional health at the top of your priority list. […] Those with atypical genitalia may still be able to have children depending on the cause of their condition. […] It’s hard to determine sexual expectations for children born with ambiguous genitalia. In addition to this condition, the brain also affects sexuality. This aspect of atypical genitalia is hard to predict.
  • #9 Atypical genitalia – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/symptoms-causes/syc-20369273
    Atypical genitalia is not a disease; it’s a difference of sex development. […] Your medical team looks for the cause of atypical genitalia and provides information and counseling that can help guide decisions about your baby’s sex and any needed treatment. […] Atypical genitalia usually happen when hormone changes during pregnancy stop or disturb an unborn baby’s developing sex organs. […] Sometimes it’s not possible to find the cause of atypical genitalia. […] If your family has a history of these risk factors, talk with your healthcare professional before trying to get pregnant. Genetic counseling also can help in planning ahead. […] Complications of atypical genitalia may include infertility. Whether people with atypical genitalia can have children depends on the specific diagnosis.
  • #10 Atypical genitalia | Beacon Health System
    https://www.beaconhealthsystem.org/library/diseases-and-conditions/atypical-genitalia?content_id=CON-20369257
    In this rare condition, a baby’s genitals are not clearly male or female. […] Atypical genitalia is not a disease; it’s a difference of sex development. […] Your medical team looks for the cause of atypical genitalia and provides information and counseling that can help guide decisions about your baby’s sex and any needed treatment. […] Atypical genitalia usually happen when hormone changes during pregnancy stop or disturb an unborn baby’s developing sex organs. […] If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. The cause helps guide treatment and decisions about your baby’s sex. […] The goal of treatment is long-term mental health and social well-being, as well as having as much sexual function and fertility as possible.
  • #11 Disorders of Sex Development – Stanford Medicine Children’s Health
    https://deprod.stanfordchildrens.org/en/topic/default?id=disorders-of-sex-development-90-P03079
    When a child’s gender is not clear at birth, the child has atypical genitalia (ambiguous genitalia). This means that the genitals don’t seem to be clearly male or female. […] Atypical genitalia can be a difficult experience for families. […] Atypical genitalia can have a number of different causes. In many cases, healthcare providers dont know the cause. It seems to occur by chance. […] Children who are born with atypical genitalia may fall into one of these groups. […] Treatment for atypical genitalia depends of the type of the disorder. But it often includes surgery to remove or create sex organs appropriate for the child’s gender. Treatment may also include hormone therapy. […] Most important, you and your family should be included early in the decision of assigning the child’s sex. Ask your healthcare provider about what is available for long-term psychological support.
  • #12 Content – Health Encyclopedia – University of Rochester Medical Center
    https://www.urmc.rochester.edu/encyclopedia/content?ContentTypeID=90&ContentID=P03079
    When a child’s gender is not clear at birth, the child has atypical genitalia (ambiguous genitalia). This means that the genitals don’t seem to be clearly male or female. […] Atypical genitalia can be a difficult experience for families. […] Many genetic and environmental factors can affect the developing baby and lead to atypical genitalia. […] Atypical genitalia can have a number of different causes. In many cases, healthcare providers dont know the cause. It seems to occur by chance. […] Atypical genitalia is the most common cause of atypical genitalia in newborns. […] Sometimes a child with atypical genitalia is at higher risk for tumors in the sex organs. Treatment for atypical genitalia depends on the type of the disorder. But it often includes surgery to remove or create sex organs appropriate for the child’s gender. Treatment may also include hormone therapy.
  • #13 Management of ambiguous genitalia – O&G Magazine
    https://www.ogmagazine.org.au/19/3-19/management-ambiguous-genitalia/
    Although the commonest cause for ambiguous genitalia is congenital adrenal hyperplasia (CAH) in 46XX individuals, the diagnosis and management of patients with ambiguous genitalia can nevertheless be challenging and will require a multidisciplinary approach. […] A multidisciplinary approach, with clear communication to the family, is essential. Neonates presenting with ambiguous genitalia should be referred to paediatric endocrinology, paediatric surgery and, if necessary, paediatric gynaecology, for investigative planning. […] The management of ambiguous genitalia has changed over time. Many more babies are raised male now, where there has been under-virilisation of a 46XY baby. […] Your language and response as the first clinician involved with the family, baby, child or teenager is vitally important. Our society continues to place a lot of emphasis on gender. The family will need your supportive care in those first few days of uncertainty. Clear and open communication is essential.
  • #14 Disorders/differences of sex development (DSDs) for primary care: the approach to the infant with ambiguous genitalia – Indyk – Translational Pediatrics
    https://tp.amegroups.org/article/view/16975/html
    The initial management of the neonate with ambiguous genitalia can be a very stressful and anxious time for families, as well as for the general practitioner or neonatologist. […] Achieving optimal outcomes requires open and transparent dialogue with the family and caregivers, and should harness the resources of a multidisciplinary team. […] The causes of genital ambiguity in newborn period are listed in Table 1. […] The most common cause of ambiguous genitalia is congenital adrenal hyperplasia. […] CAH should be the primary consideration in any virilized infant with non-palpable gonads. […] The first conversations with the family need to set a positive tone where the new parents will be respectfully included and guided through the process. […] Assigning a sex of rearing is a great responsibility and obligation and should not be rushed.
  • #15 Disorders/differences of sex development (DSDs) for primary care: the approach to the infant with ambiguous genitalia – Indyk – Translational Pediatrics
    https://tp.amegroups.org/article/view/16975/html
    The initial management of the neonate with ambiguous genitalia can be a very stressful and anxious time for families, as well as for the general practitioner or neonatologist. […] Achieving optimal outcomes requires open and transparent dialogue with the family and caregivers, and should harness the resources of a multidisciplinary team. […] The causes of genital ambiguity in newborn period are listed in Table 1. […] The most common cause of ambiguous genitalia is congenital adrenal hyperplasia. […] CAH should be the primary consideration in any virilized infant with non-palpable gonads. […] The first conversations with the family need to set a positive tone where the new parents will be respectfully included and guided through the process. […] Assigning a sex of rearing is a great responsibility and obligation and should not be rushed.
  • #16 Content – Health Encyclopedia – University of Rochester Medical Center
    https://www.urmc.rochester.edu/encyclopedia/content?ContentTypeID=90&ContentID=P03079
    When a child’s gender is not clear at birth, the child has atypical genitalia (ambiguous genitalia). This means that the genitals don’t seem to be clearly male or female. […] Atypical genitalia can be a difficult experience for families. […] Many genetic and environmental factors can affect the developing baby and lead to atypical genitalia. […] Atypical genitalia can have a number of different causes. In many cases, healthcare providers dont know the cause. It seems to occur by chance. […] Atypical genitalia is the most common cause of atypical genitalia in newborns. […] Sometimes a child with atypical genitalia is at higher risk for tumors in the sex organs. Treatment for atypical genitalia depends on the type of the disorder. But it often includes surgery to remove or create sex organs appropriate for the child’s gender. Treatment may also include hormone therapy.
  • #17 Disorders of Sex Development – Stanford Medicine Children’s Health
    https://deprod.stanfordchildrens.org/en/topic/default?id=disorders-of-sex-development-90-P03079
    When a child’s gender is not clear at birth, the child has atypical genitalia (ambiguous genitalia). This means that the genitals don’t seem to be clearly male or female. […] Atypical genitalia can be a difficult experience for families. […] Atypical genitalia can have a number of different causes. In many cases, healthcare providers dont know the cause. It seems to occur by chance. […] Children who are born with atypical genitalia may fall into one of these groups. […] Treatment for atypical genitalia depends of the type of the disorder. But it often includes surgery to remove or create sex organs appropriate for the child’s gender. Treatment may also include hormone therapy. […] Most important, you and your family should be included early in the decision of assigning the child’s sex. Ask your healthcare provider about what is available for long-term psychological support.
  • #18 Disorders of Sex Development
    https://livinghealthy.hawaiipacifichealth.org/Library/News/Newsletters/Heart/90,P03079
    When a child’s gender is not clear at birth, the child has atypical genitalia (ambiguous genitalia). This means that the genitals don’t seem to be clearly male or female. […] Atypical genitalia can be a difficult experience for families. […] Atypical genitalia can have a number of different causes. In many cases, healthcare providers dont know the cause. It seems to occur by chance. […] Children who are born with atypical genitalia may fall into one of these groups. […] Treatment for atypical genitalia depends on the type of the disorder. But it often includes surgery to remove or create sex organs appropriate for the child’s gender. Treatment may also include hormone therapy. […] Most important, you and your family should be included early in the decision of assigning the child’s sex. Ask your healthcare provider about what is available for long-term psychological support.
  • #19 Atypical genitalia in neonates – Symptoms, diagnosis and treatment | BMJ Best Practice US
    https://bestpractice.bmj.com/topics/en-us/868
    Atypical genitalia (i.e., a genital phenotype that is neither clearly male nor female) are caused by the atypical development of chromosomal, gonadal, or anatomical sex. The complex group of disorders that cause atypical genitalia are called differences of sex development (DSD). […] The initial management of a neonate with atypical genitalia is a social and clinical emergency. The local team has a key role in coordinating the initial assessment and investigations, and supporting parents. It is important there is early discussion with a more specialist multidisciplinary team with expertise in pediatric endocrinology, genetics, and surgery, and with appropriate psychiatric/psychological support. For many DSDs, long-term surgical and psychosexual outcomes remain uncertain. […] This topic addresses the initial approach to neonates with atypical genitalia who are not identified as having a specific chromosomal syndrome in which atypical genitalia may be one of a number of presenting features.
  • #20 Atypical genitalia in neonates – Symptoms, diagnosis and treatment | BMJ Best Practice US
    https://bestpractice.bmj.com/topics/en-us/868?locale=th
    Atypical genitalia (i.e., a genital phenotype that is neither clearly male nor female) are caused by the atypical development of chromosomal, gonadal, or anatomical sex. The initial management of a neonate with atypical genitalia is a social and clinical emergency. The local team has a key role in coordinating the initial assessment and investigations, and supporting parents. […] It is important there is early discussion with a more specialist multidisciplinary team with expertise in pediatric endocrinology, genetics, and surgery, and with appropriate psychiatric/psychological support. For many DSDs, long-term surgical and psychosexual outcomes remain uncertain. […] This topic addresses the initial approach to neonates with atypical genitalia who are not identified as having a specific chromosomal syndrome in which atypical genitalia may be one of a number of presenting features.
  • #21 Atypical genitalia – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/diagnosis-treatment/drc-20369278
    Atypical genitalia is usually diagnosed at birth or shortly after. […] If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. […] The goal of treatment is long-term mental health and social well-being, as well as having as much sexual function and fertility as possible. […] Atypical genitalia is complex and not common. Managing it may require a team of experts. […] Hormone medicines may help correct or manage hormones that are out of balance. […] In children with atypical genitalia, surgery may be used to keep healthy sexual function and create genitals that appear more typical. […] Children with atypical genitalia need ongoing medical care. […] If your baby has atypical genitalia, you may worry about the baby’s future. […] Your child may find ongoing counseling by mental health professionals helpful and may choose to be a part of support groups into adulthood. […] Consider waiting to make a formal announcement of the birth until testing is done and you’ve created a plan with advice from your medical team.
  • #22 Management of Atypical Genitalia & Suspected DSD in the Neonate | NHSGGC
    https://clinicalguidelines.scot.nhs.uk/ggc-paediatric-guidelines/ggc-paediatric-guidelines/neonatology/management-of-atypical-genitalia-suspected-dsd-in-the-neonate/
    This document is applicable to all medical, nursing and midwifery staff caring for the newborn in hospital or the community. The main focus of this document is on the management of the child with suspected disorder of sex development (DSD). […] These conditions are very heterogeneous and can present in a variety of different ways, most commonly with atypical genitalia in the newborn period or as a disorder of puberty in adolescence. […] The needs of each individual patient must be fully considered, along with the needs of their families and cultural practices. […] Families should be provided with as much information as possible. […] A child with a suspected DSD may present with one or more of these features: a bifid scrotum, bilateral undescended testes, clitoromegaly, micropenis, proximal hypospadias, distal or midshaft hypospadias in combination with any of the above features.
  • #23 Management of Atypical Genitalia & Suspected DSD in the Neonate | NHSGGC
    https://clinicalguidelines.scot.nhs.uk/ggc-paediatric-guidelines/ggc-paediatric-guidelines/neonatology/management-of-atypical-genitalia-suspected-dsd-in-the-neonate/
    This document is applicable to all medical, nursing and midwifery staff caring for the newborn in hospital or the community. The main focus of this document is on the management of the child with suspected disorder of sex development (DSD). […] These conditions are very heterogeneous and can present in a variety of different ways, most commonly with atypical genitalia in the newborn period or as a disorder of puberty in adolescence. […] The needs of each individual patient must be fully considered, along with the needs of their families and cultural practices. […] Families should be provided with as much information as possible. […] A child with a suspected DSD may present with one or more of these features: a bifid scrotum, bilateral undescended testes, clitoromegaly, micropenis, proximal hypospadias, distal or midshaft hypospadias in combination with any of the above features.
  • #24 Ambiguous Genitalia Guidelines – PAEDIATRIC INNOVATION, EDUCATION & RESEARCH NETWORK
    https://www.piernetwork.org/ambiguous-genitalia.html
    The baby needs to be monitored as an inpatient for hypoglycaemia and adrenal insufficiency. […] Endocrine investigations should be started at presentation and within the first week of life for a neonate. […] A baby with atypical or ambiguous genitalia is potentially at risk of adrenal insufficiency.
  • #25 Ambiguous Genitalia Guidelines – PAEDIATRIC INNOVATION, EDUCATION & RESEARCH NETWORK
    https://www.piernetwork.org/ambiguous-genitalia.html
    The baby needs to be monitored as an inpatient for hypoglycaemia and adrenal insufficiency. […] Endocrine investigations should be started at presentation and within the first week of life for a neonate. […] A baby with atypical or ambiguous genitalia is potentially at risk of adrenal insufficiency.
  • #26 Ambiguous Genitalia: Definition & Causes
    https://my.clevelandclinic.org/health/diseases/22470-atypical-genitalia-formerly-known-as-ambiguous-genitalia
    Atypical genitalia, formerly known as ambiguous genitalia, is a rare condition where your newborns external genitals dont look typically male or typically female. […] Treatment includes hormone therapy or surgery. […] Infants with atypical (intersex) genitals may have external genitals that dont match their internal sex organs or genetic sex. Atypical genitalia is a difference of sexual development (DSD). […] The first step of management is to identify the cause of atypical genitalia. Then, your babys healthcare provider will put together a treatment plan and sex assignment based on hormone tests and other test results. […] Treatment options may include: Hormone replacement therapy (HRT): Hormone therapy alone may help treat a hormonal imbalance. […] Reconstructive surgery: Your babys healthcare team, in consultation with you, may suggest surgery while your baby is still an infant. But reconstructive surgery for atypical genitalia is controversial.
  • #27 Ambiguous genitalia in neonates | Safer Care Victoria
    https://www.safercare.vic.gov.au/best-practice-improvement/clinical-guidance/neonatal/ambiguous-genitalia-in-neonates
    Families require long-term medical and psychological support. […] Infants, for example those with CAH have additional requirements for ongoing medical therapy. […] Disclosure to the patient about their diagnosis is usually undertaken in mid to late adolescence when they have the ability to understand complex issues such as chromosomes, hormones etc, and possess some degree of emotional maturity.
  • #28 Atypical genitalia in neonates – Symptoms, diagnosis and treatment | BMJ Best Practice US
    https://bestpractice.bmj.com/topics/en-us/868
    Atypical genitalia (i.e., a genital phenotype that is neither clearly male nor female) are caused by the atypical development of chromosomal, gonadal, or anatomical sex. The complex group of disorders that cause atypical genitalia are called differences of sex development (DSD). […] The initial management of a neonate with atypical genitalia is a social and clinical emergency. The local team has a key role in coordinating the initial assessment and investigations, and supporting parents. It is important there is early discussion with a more specialist multidisciplinary team with expertise in pediatric endocrinology, genetics, and surgery, and with appropriate psychiatric/psychological support. For many DSDs, long-term surgical and psychosexual outcomes remain uncertain. […] This topic addresses the initial approach to neonates with atypical genitalia who are not identified as having a specific chromosomal syndrome in which atypical genitalia may be one of a number of presenting features.
  • #29 Atypical genitalia – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/diagnosis-treatment/drc-20369278
    Atypical genitalia is usually diagnosed at birth or shortly after. […] If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. […] The goal of treatment is long-term mental health and social well-being, as well as having as much sexual function and fertility as possible. […] Atypical genitalia is complex and not common. Managing it may require a team of experts. […] Hormone medicines may help correct or manage hormones that are out of balance. […] In children with atypical genitalia, surgery may be used to keep healthy sexual function and create genitals that appear more typical. […] Children with atypical genitalia need ongoing medical care. […] If your baby has atypical genitalia, you may worry about the baby’s future. […] Your child may find ongoing counseling by mental health professionals helpful and may choose to be a part of support groups into adulthood. […] Consider waiting to make a formal announcement of the birth until testing is done and you’ve created a plan with advice from your medical team.
  • #30 Atypical genitalia | Beacon Health System
    https://www.beaconhealthsystem.org/library/diseases-and-conditions/atypical-genitalia?content_id=CON-20369257
    In this rare condition, a baby’s genitals are not clearly male or female. […] Atypical genitalia is not a disease; it’s a difference of sex development. […] Your medical team looks for the cause of atypical genitalia and provides information and counseling that can help guide decisions about your baby’s sex and any needed treatment. […] Atypical genitalia usually happen when hormone changes during pregnancy stop or disturb an unborn baby’s developing sex organs. […] If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. The cause helps guide treatment and decisions about your baby’s sex. […] The goal of treatment is long-term mental health and social well-being, as well as having as much sexual function and fertility as possible.
  • #31 Atypical genitalia | Health Library | Memorial Health System
    https://www.mhsystem.org/health-library/con-20369257/
    The goal of treatment is long-term mental health and social well-being, as well as having as much sexual function and fertility as possible. When to begin treatment depends on your childs specific situation. […] Children with atypical genitalia need ongoing medical care. This includes watching for complications, such as getting cancer screenings into adulthood. […] If your baby has atypical genitalia, you may worry about the babys future. Mental health professionals can help you deal with this difference that you didnt expect.
  • #32 Pediatric ambiguous genitalia – Children’s Health Urology
    https://www.childrens.com/specialties-services/conditions/ambiguous-genitalia
    Ambiguous genitalia is uncommon and complex, and treatment often requires cooperation among pediatricians, neonatologists, pediatric urologists, pediatric general surgeons, endocrinologists, geneticists, and psychologists or social workers. […] Hormone medications may help correct or compensate for the hormonal imbalance. For example, in a genetic female with a slightly enlarged clitoris caused by a minor to moderate case of congenital adrenal hyperplasia, proper levels of hormones may reduce the size of the tissue. Other children may take hormones around the time they would normally experience puberty. […] The timing of surgery will depend on your child’s specific situation. Some doctors prefer to postpone surgery until your child is mature enough to participate in the decision about gender assignment.
  • #33 Ambiguous Genitalia: Definition & Causes
    https://my.clevelandclinic.org/health/diseases/22470-atypical-genitalia-formerly-known-as-ambiguous-genitalia
    Atypical genitalia, formerly known as ambiguous genitalia, is a rare condition where your newborns external genitals dont look typically male or typically female. […] Treatment includes hormone therapy or surgery. […] Infants with atypical (intersex) genitals may have external genitals that dont match their internal sex organs or genetic sex. Atypical genitalia is a difference of sexual development (DSD). […] The first step of management is to identify the cause of atypical genitalia. Then, your babys healthcare provider will put together a treatment plan and sex assignment based on hormone tests and other test results. […] Treatment options may include: Hormone replacement therapy (HRT): Hormone therapy alone may help treat a hormonal imbalance. […] Reconstructive surgery: Your babys healthcare team, in consultation with you, may suggest surgery while your baby is still an infant. But reconstructive surgery for atypical genitalia is controversial.
  • #34 Pediatric ambiguous genitalia – Children’s Health Urology
    https://www.childrens.com/specialties-services/conditions/ambiguous-genitalia
    Ambiguous genitalia is uncommon and complex, and treatment often requires cooperation among pediatricians, neonatologists, pediatric urologists, pediatric general surgeons, endocrinologists, geneticists, and psychologists or social workers. […] Hormone medications may help correct or compensate for the hormonal imbalance. For example, in a genetic female with a slightly enlarged clitoris caused by a minor to moderate case of congenital adrenal hyperplasia, proper levels of hormones may reduce the size of the tissue. Other children may take hormones around the time they would normally experience puberty. […] The timing of surgery will depend on your child’s specific situation. Some doctors prefer to postpone surgery until your child is mature enough to participate in the decision about gender assignment.
  • #35 Ambiguous Genitalia: Definition & Causes
    https://my.clevelandclinic.org/health/diseases/22470-atypical-genitalia-formerly-known-as-ambiguous-genitalia
    Atypical genitalia, formerly known as ambiguous genitalia, is a rare condition where your newborns external genitals dont look typically male or typically female. […] Treatment includes hormone therapy or surgery. […] Infants with atypical (intersex) genitals may have external genitals that dont match their internal sex organs or genetic sex. Atypical genitalia is a difference of sexual development (DSD). […] The first step of management is to identify the cause of atypical genitalia. Then, your babys healthcare provider will put together a treatment plan and sex assignment based on hormone tests and other test results. […] Treatment options may include: Hormone replacement therapy (HRT): Hormone therapy alone may help treat a hormonal imbalance. […] Reconstructive surgery: Your babys healthcare team, in consultation with you, may suggest surgery while your baby is still an infant. But reconstructive surgery for atypical genitalia is controversial.
  • #36 Atypical genitalia – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/diagnosis-treatment/drc-20369278
    Atypical genitalia is usually diagnosed at birth or shortly after. […] If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. […] The goal of treatment is long-term mental health and social well-being, as well as having as much sexual function and fertility as possible. […] Atypical genitalia is complex and not common. Managing it may require a team of experts. […] Hormone medicines may help correct or manage hormones that are out of balance. […] In children with atypical genitalia, surgery may be used to keep healthy sexual function and create genitals that appear more typical. […] Children with atypical genitalia need ongoing medical care. […] If your baby has atypical genitalia, you may worry about the baby’s future. […] Your child may find ongoing counseling by mental health professionals helpful and may choose to be a part of support groups into adulthood. […] Consider waiting to make a formal announcement of the birth until testing is done and you’ve created a plan with advice from your medical team.
  • #37 Atypical genitalia
    https://johnsonmemorial.org/jmh-health/disease-conditions/con-20369257
    Atypical genitalia, formerly called ambiguous genitalia, is a rare condition in which an infant’s genitals don’t appear to be clearly male or female on the outside. […] Atypical genitalia is not a disease; it’s a difference of sex development. […] Your medical team looks for the cause of atypical genitalia and provides information and counseling that can help guide decisions about your baby’s sex and any needed treatment. […] The goal of treatment is long-term mental health and social well-being, as well as having as much sexual function and fertility as possible. […] Managing it may require a team of experts. […] Hormone medicines may help correct or manage hormones that are out of balance. […] In children with atypical genitalia, surgery may be used to keep healthy sexual function and create genitals that appear more typical.
  • #38 Pediatric ambiguous genitalia – Children’s Health Urology
    https://www.childrens.com/specialties-services/conditions/ambiguous-genitalia
    Ambiguous genitalia is uncommon and complex, and treatment often requires cooperation among pediatricians, neonatologists, pediatric urologists, pediatric general surgeons, endocrinologists, geneticists, and psychologists or social workers. […] Hormone medications may help correct or compensate for the hormonal imbalance. For example, in a genetic female with a slightly enlarged clitoris caused by a minor to moderate case of congenital adrenal hyperplasia, proper levels of hormones may reduce the size of the tissue. Other children may take hormones around the time they would normally experience puberty. […] The timing of surgery will depend on your child’s specific situation. Some doctors prefer to postpone surgery until your child is mature enough to participate in the decision about gender assignment.
  • #39 Ambiguous genitalia: MedlinePlus Medical EncyclopediaLock
    https://medlineplus.gov/ency/article/003269.htm
    Ambiguous genitalia is a rare condition where a child is born with outer genitals that do not clearly look either male or female. […] This condition is also called uncertain genitalia or atypical genitalia. […] Ambiguous genitalia is common in children with differences of sex development (DSD). […] With a few exceptions, ambiguous genitalia is most often not life-threatening. However, its treatment has short- and long-term consequences. For this reason, a team of health care professionals with expertise in DSD will work together to understand and treat the child and support the family. […] Depending on the cause, surgery, hormone replacement, or other treatments are used to treat conditions that can cause ambiguous genitalia. […] Many experts now urge delaying definitive surgery for as long as is healthy, and ideally involving the child in the decision, unless surgery is needed for the health of the infant. Working with your child’s heath care team can help you make the best choices for your child.
  • #40 Ambiguous genitalia
    https://adamcertificationdemo.adam.com/content.aspx?productid=142&pid=1&gid=003269
    Many experts now urge delaying definitive surgery for as long as is healthy, and ideally involving the child in the decision, unless surgery is needed for the health of the infant. Working with your child’s health care team can help you make the best choices for your child. In addition, a DSD support group can help provide families with the latest research and offer a community of other families, children, and adult individuals who have faced the same issues.
  • #41 Ambiguous genitalia: clinical management of adult female with male assigned gender: a case report | Journal of Medical Case Reports | Full Text
    https://jmedicalcasereports.biomedcentral.com/articles/10.1186/s13256-021-02914-2
    The current practice for managing these diseases is an early multidisciplinary approach that often includes early surgical evaluation and possible reconstruction, at most deferring until adolescence. […] Advocates for deferral of surgical intervention raise concern that the influence of high maternal estrogen levels that causes clitoromegaly could be mistaken for male phallus, leading to wrong gender assignment. […] Continuous psychological counseling while delaying vaginoplasty is currently considered. […] The optimal timing of the surgery remains unclear. […] The advantages of deferring surgical reconstruction with psychological counseling after early assessment need to be considered to prevent inappropriate gender assignment.
  • #42 A Call to Update Standard of Care for Children With Differences in Sex Development | Journal of Ethics | American Medical Association
    https://journalofethics.ama-assn.org/article/call-update-standard-care-children-differences-sex-development/2021-07
    Harms cited that can carry significant implications as a child matures include a sex assigned at birth that does not align with the individuals eventual gender identity and surgical complications that affect sexual functioning. […] Organizations have repeatedly found that the data are insufficient to support DSD procedures as necessary, beneficial, or safe. […] The latest and most rigorous study that assesses long-term outcomes of patients with DSD appropriately compares large samples of individuals who did and did not have surgical interventions. […] These results support deferral of intervention, as DSD individuals were more likely to change assigned gender than the general population. […] We call on clinicians to heed these repetitive calls to action and to recognize that when an individual is born with atypical genitalia that poses no physical risk, treatment should focus not on surgical intervention but on psychosocial and educational support for the family and child.
  • #43 A Call to Update Standard of Care for Children With Differences in Sex Development | Journal of Ethics | American Medical Association
    https://journalofethics.ama-assn.org/article/call-update-standard-care-children-differences-sex-development/2021-07
    Harms cited that can carry significant implications as a child matures include a sex assigned at birth that does not align with the individuals eventual gender identity and surgical complications that affect sexual functioning. […] Organizations have repeatedly found that the data are insufficient to support DSD procedures as necessary, beneficial, or safe. […] The latest and most rigorous study that assesses long-term outcomes of patients with DSD appropriately compares large samples of individuals who did and did not have surgical interventions. […] These results support deferral of intervention, as DSD individuals were more likely to change assigned gender than the general population. […] We call on clinicians to heed these repetitive calls to action and to recognize that when an individual is born with atypical genitalia that poses no physical risk, treatment should focus not on surgical intervention but on psychosocial and educational support for the family and child.
  • #44 A Call to Update Standard of Care for Children With Differences in Sex Development | Journal of Ethics | American Medical Association
    https://journalofethics.ama-assn.org/article/call-update-standard-care-children-differences-sex-development/2021-07
    Harms cited that can carry significant implications as a child matures include a sex assigned at birth that does not align with the individuals eventual gender identity and surgical complications that affect sexual functioning. […] Organizations have repeatedly found that the data are insufficient to support DSD procedures as necessary, beneficial, or safe. […] The latest and most rigorous study that assesses long-term outcomes of patients with DSD appropriately compares large samples of individuals who did and did not have surgical interventions. […] These results support deferral of intervention, as DSD individuals were more likely to change assigned gender than the general population. […] We call on clinicians to heed these repetitive calls to action and to recognize that when an individual is born with atypical genitalia that poses no physical risk, treatment should focus not on surgical intervention but on psychosocial and educational support for the family and child.
  • #45 Ambiguous Genitalia: Definition & Causes
    https://my.clevelandclinic.org/health/diseases/22470-atypical-genitalia-formerly-known-as-ambiguous-genitalia
    Ambiguous genitalia (atypical genitalia) can have profound physical, social and psychological effects on your child. […] Your babys healthcare provider usually discovers atypical genital (ambiguous genitalia) at birth or at their first well-child exam. […] A diagnosis of ambiguous genitalia (atypical genitalia) in your newborn can be very distressing for you and your family.
  • #46 Ambiguous Genitalia: Definition & Causes
    https://my.clevelandclinic.org/health/diseases/22470-atypical-genitalia-formerly-known-as-ambiguous-genitalia
    Ambiguous genitalia (atypical genitalia) can have profound physical, social and psychological effects on your child. […] Your babys healthcare provider usually discovers atypical genital (ambiguous genitalia) at birth or at their first well-child exam. […] A diagnosis of ambiguous genitalia (atypical genitalia) in your newborn can be very distressing for you and your family.
  • #47 Management of Atypical Genitalia & Suspected DSD in the Neonate | NHSGGC
    https://clinicalguidelines.scot.nhs.uk/ggc-paediatric-guidelines/ggc-paediatric-guidelines/neonatology/management-of-atypical-genitalia-suspected-dsd-in-the-neonate/
    If any of these features are detected at delivery and there is uncertainty about the sex of the baby, explain to the parents that it is not possible to tell whether their infant is a girl or a boy. […] Clinical psychology support should be offered to the parents of every newborn where sex assignment is delayed. […] In the event that the above features are picked up late, i.e at neonatal discharge check when sex may have already been assigned, the neonatal consultant on-call should be informed on the day so that the concerns regarding the genitalia can be conveyed to parents. […] Depending on the case, ongoing management may require the help of several members of the DSD MDT. […] As a default, all cases of suspected DSD should be reviewed at the second Monday of the month clinic held by Prof Ahmed at RHC which is also attended by Emily Fraser from Clinical Psychology and Dr Ruth McGowan from Clinical Genetics.
  • #48 Management of Atypical Genitalia & Suspected DSD in the Neonate | NHSGGC
    https://clinicalguidelines.scot.nhs.uk/ggc-paediatric-guidelines/ggc-paediatric-guidelines/neonatology/management-of-atypical-genitalia-suspected-dsd-in-the-neonate/
    This document is applicable to all medical, nursing and midwifery staff caring for the newborn in hospital or the community. The main focus of this document is on the management of the child with suspected disorder of sex development (DSD). […] These conditions are very heterogeneous and can present in a variety of different ways, most commonly with atypical genitalia in the newborn period or as a disorder of puberty in adolescence. […] The needs of each individual patient must be fully considered, along with the needs of their families and cultural practices. […] Families should be provided with as much information as possible. […] A child with a suspected DSD may present with one or more of these features: a bifid scrotum, bilateral undescended testes, clitoromegaly, micropenis, proximal hypospadias, distal or midshaft hypospadias in combination with any of the above features.
  • #49 Disorders/differences of sex development (DSDs) for primary care: the approach to the infant with ambiguous genitalia – Indyk – Translational Pediatrics
    https://tp.amegroups.org/article/view/16975/html
    The initial management of the neonate with ambiguous genitalia can be a very stressful and anxious time for families, as well as for the general practitioner or neonatologist. […] Achieving optimal outcomes requires open and transparent dialogue with the family and caregivers, and should harness the resources of a multidisciplinary team. […] The causes of genital ambiguity in newborn period are listed in Table 1. […] The most common cause of ambiguous genitalia is congenital adrenal hyperplasia. […] CAH should be the primary consideration in any virilized infant with non-palpable gonads. […] The first conversations with the family need to set a positive tone where the new parents will be respectfully included and guided through the process. […] Assigning a sex of rearing is a great responsibility and obligation and should not be rushed.
  • #50 Management of ambiguous genitalia – O&G Magazine
    https://www.ogmagazine.org.au/19/3-19/management-ambiguous-genitalia/
    Although the commonest cause for ambiguous genitalia is congenital adrenal hyperplasia (CAH) in 46XX individuals, the diagnosis and management of patients with ambiguous genitalia can nevertheless be challenging and will require a multidisciplinary approach. […] A multidisciplinary approach, with clear communication to the family, is essential. Neonates presenting with ambiguous genitalia should be referred to paediatric endocrinology, paediatric surgery and, if necessary, paediatric gynaecology, for investigative planning. […] The management of ambiguous genitalia has changed over time. Many more babies are raised male now, where there has been under-virilisation of a 46XY baby. […] Your language and response as the first clinician involved with the family, baby, child or teenager is vitally important. Our society continues to place a lot of emphasis on gender. The family will need your supportive care in those first few days of uncertainty. Clear and open communication is essential.
  • #51 Management of Atypical Genitalia & Suspected DSD in the Neonate | NHSGGC
    https://clinicalguidelines.scot.nhs.uk/ggc-paediatric-guidelines/ggc-paediatric-guidelines/neonatology/management-of-atypical-genitalia-suspected-dsd-in-the-neonate/
    If any of these features are detected at delivery and there is uncertainty about the sex of the baby, explain to the parents that it is not possible to tell whether their infant is a girl or a boy. […] Clinical psychology support should be offered to the parents of every newborn where sex assignment is delayed. […] In the event that the above features are picked up late, i.e at neonatal discharge check when sex may have already been assigned, the neonatal consultant on-call should be informed on the day so that the concerns regarding the genitalia can be conveyed to parents. […] Depending on the case, ongoing management may require the help of several members of the DSD MDT. […] As a default, all cases of suspected DSD should be reviewed at the second Monday of the month clinic held by Prof Ahmed at RHC which is also attended by Emily Fraser from Clinical Psychology and Dr Ruth McGowan from Clinical Genetics.
  • #52 Disorders/differences of sex development (DSDs) for primary care: the approach to the infant with ambiguous genitalia – Indyk – Translational Pediatrics
    https://tp.amegroups.org/article/view/16975/html
    Parents must be involved and made to feel included in decision-making. […] Though the history of surgery in DSD is filled with controversy and regret, surgical intervention has an important role in certain circumstances. […] A team-based approach is optimal. […] The need for broad and longitudinal psychological support cannot be overstated. […] Urgent referral or consultation with pediatric endocrinology (and eventually the entire multidisciplinary team) is essential if genital ambiguity is noted in the neonatal period, in order to expedite an informed sex assignment.
  • #53 Atypical genitalia – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/diagnosis-treatment/drc-20369278
    Atypical genitalia is usually diagnosed at birth or shortly after. […] If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. […] The goal of treatment is long-term mental health and social well-being, as well as having as much sexual function and fertility as possible. […] Atypical genitalia is complex and not common. Managing it may require a team of experts. […] Hormone medicines may help correct or manage hormones that are out of balance. […] In children with atypical genitalia, surgery may be used to keep healthy sexual function and create genitals that appear more typical. […] Children with atypical genitalia need ongoing medical care. […] If your baby has atypical genitalia, you may worry about the baby’s future. […] Your child may find ongoing counseling by mental health professionals helpful and may choose to be a part of support groups into adulthood. […] Consider waiting to make a formal announcement of the birth until testing is done and you’ve created a plan with advice from your medical team.
  • #54 Atypical genitalia | Health Library | Memorial Health System
    https://www.mhsystem.org/health-library/con-20369257/
    The goal of treatment is long-term mental health and social well-being, as well as having as much sexual function and fertility as possible. When to begin treatment depends on your childs specific situation. […] Children with atypical genitalia need ongoing medical care. This includes watching for complications, such as getting cancer screenings into adulthood. […] If your baby has atypical genitalia, you may worry about the babys future. Mental health professionals can help you deal with this difference that you didnt expect.
  • #55 Atypical genitalia | Health Library | Memorial Health System
    https://www.mhsystem.org/health-library/con-20369257/
    The goal of treatment is long-term mental health and social well-being, as well as having as much sexual function and fertility as possible. When to begin treatment depends on your childs specific situation. […] Children with atypical genitalia need ongoing medical care. This includes watching for complications, such as getting cancer screenings into adulthood. […] If your baby has atypical genitalia, you may worry about the babys future. Mental health professionals can help you deal with this difference that you didnt expect.
  • #56 Atypical genitalia – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/diagnosis-treatment/drc-20369278
    Atypical genitalia is usually diagnosed at birth or shortly after. […] If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. […] The goal of treatment is long-term mental health and social well-being, as well as having as much sexual function and fertility as possible. […] Atypical genitalia is complex and not common. Managing it may require a team of experts. […] Hormone medicines may help correct or manage hormones that are out of balance. […] In children with atypical genitalia, surgery may be used to keep healthy sexual function and create genitals that appear more typical. […] Children with atypical genitalia need ongoing medical care. […] If your baby has atypical genitalia, you may worry about the baby’s future. […] Your child may find ongoing counseling by mental health professionals helpful and may choose to be a part of support groups into adulthood. […] Consider waiting to make a formal announcement of the birth until testing is done and you’ve created a plan with advice from your medical team.
  • #57 Atypical genitalia
    https://johnsonmemorial.org/jmh-health/disease-conditions/con-20369257
    Children with atypical genitalia need ongoing medical care. This includes watching for complications, such as getting cancer screenings into adulthood. […] Mental health professionals can help you deal with this difference that you didn’t expect. […] Your child may find ongoing counseling by mental health professionals helpful and may choose to be a part of support groups into adulthood.
  • #58 Ambiguous genitalia
    https://adamcertificationdemo.adam.com/content.aspx?productid=142&pid=1&gid=003269
    Many experts now urge delaying definitive surgery for as long as is healthy, and ideally involving the child in the decision, unless surgery is needed for the health of the infant. Working with your child’s health care team can help you make the best choices for your child. In addition, a DSD support group can help provide families with the latest research and offer a community of other families, children, and adult individuals who have faced the same issues.
  • #59 Ambiguous genitalia in neonates | Safer Care Victoria
    https://www.safercare.vic.gov.au/best-practice-improvement/clinical-guidance/neonatal/ambiguous-genitalia-in-neonates
    Families require long-term medical and psychological support. […] Infants, for example those with CAH have additional requirements for ongoing medical therapy. […] Disclosure to the patient about their diagnosis is usually undertaken in mid to late adolescence when they have the ability to understand complex issues such as chromosomes, hormones etc, and possess some degree of emotional maturity.
  • #60 Atypical genitalia – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/diagnosis-treatment/drc-20369278
    Atypical genitalia is usually diagnosed at birth or shortly after. […] If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. […] The goal of treatment is long-term mental health and social well-being, as well as having as much sexual function and fertility as possible. […] Atypical genitalia is complex and not common. Managing it may require a team of experts. […] Hormone medicines may help correct or manage hormones that are out of balance. […] In children with atypical genitalia, surgery may be used to keep healthy sexual function and create genitals that appear more typical. […] Children with atypical genitalia need ongoing medical care. […] If your baby has atypical genitalia, you may worry about the baby’s future. […] Your child may find ongoing counseling by mental health professionals helpful and may choose to be a part of support groups into adulthood. […] Consider waiting to make a formal announcement of the birth until testing is done and you’ve created a plan with advice from your medical team.
  • #61 Atypical genitalia | Beacon Health System
    https://www.beaconhealthsystem.org/library/diseases-and-conditions/atypical-genitalia?content_id=CON-20369257
    Managing it may require a team of experts. […] Children with atypical genitalia need ongoing medical care. […] Mental health professionals can help you deal with this difference that you didn’t expect. […] Your medical team can provide you with updates and information as quickly as possible. […] If your baby is born with atypical genitalia, you may be referred to a medical center with doctors and other healthcare professionals who have expertise in managing this condition.
  • #62 Management of ambiguous genitalia – O&G Magazine
    https://www.ogmagazine.org.au/19/3-19/management-ambiguous-genitalia/
    Although the commonest cause for ambiguous genitalia is congenital adrenal hyperplasia (CAH) in 46XX individuals, the diagnosis and management of patients with ambiguous genitalia can nevertheless be challenging and will require a multidisciplinary approach. […] A multidisciplinary approach, with clear communication to the family, is essential. Neonates presenting with ambiguous genitalia should be referred to paediatric endocrinology, paediatric surgery and, if necessary, paediatric gynaecology, for investigative planning. […] The management of ambiguous genitalia has changed over time. Many more babies are raised male now, where there has been under-virilisation of a 46XY baby. […] Your language and response as the first clinician involved with the family, baby, child or teenager is vitally important. Our society continues to place a lot of emphasis on gender. The family will need your supportive care in those first few days of uncertainty. Clear and open communication is essential.
  • #63 Ambiguous Genitalia (Atypical Genitalia) | Children’s Hospital Colorado
    https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/ambiguous-genetalia/
    Ambiguous genitalia is also called atypical genitalia. Its considered a disorder or difference of sex development (DSD), a group of conditions (previously called intersex) that occur when biological sex and external genitalia dont match. […] The goal of treatment for ambiguous genitalia is to ensure your child has sexual and reproductive function as well as social and psychological well-being. Your childs treatment may include a team of experts, such as pediatric urologists, pediatric endocrinologists, geneticists, psychologists and social workers. […] Our Sex Development Outcomes Achieving Results (SOAR) Clinic cares for infants, children and young adults with disorders of sex development. Through our team approach, we offer comprehensive evaluation, medical and surgical care, psychological counseling, support and education for patients and families.
  • #64 Ambiguous Genitalia | Texas Children’s
    https://www.texaschildrens.org/content/conditions/ambiguous-genitalia
    Ambiguous genitalia is a rare birth defect in which a baby’s external genitals aren’t clearly male or female. […] Treatment depends on the individual and their symptoms. Treatment strategies include: […] Ambiguous genitalia is a rare and complex condition requiring specialized expertise in disorders of sexual development and a team of specialists – including neonatologists, geneticists, gynecologists, urologists, endocrinologists, psychiatrists and social workers – all working together to improve the girl’s physical and emotional well-being.
  • #65 Ambiguous Genitalia (Atypical Genitalia) | Children’s Hospital Colorado
    https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/ambiguous-genetalia/
    Ambiguous genitalia is also called atypical genitalia. Its considered a disorder or difference of sex development (DSD), a group of conditions (previously called intersex) that occur when biological sex and external genitalia dont match. […] The goal of treatment for ambiguous genitalia is to ensure your child has sexual and reproductive function as well as social and psychological well-being. Your childs treatment may include a team of experts, such as pediatric urologists, pediatric endocrinologists, geneticists, psychologists and social workers. […] Our Sex Development Outcomes Achieving Results (SOAR) Clinic cares for infants, children and young adults with disorders of sex development. Through our team approach, we offer comprehensive evaluation, medical and surgical care, psychological counseling, support and education for patients and families.
  • #66 Infant with Ambiguous Genitalia – Pediatric Endocrine Society
    https://pedsendo.org/clinical-resource/infant-with-ambiguous-genitalia/
    Ambiguous genitalia: including bilateral cryptorchidism, hypospadias with unilateral cryptorchidism, posterior labial fusion Hyperpigmentation […] Urgent: All cases of ambiguous genitalia are considered an emergency and should be promptly referred to a pediatric endocrinology team with a multidisciplinary approach to these patients. […] Gender assignment is not done until evaluation is completed by the multidisciplinary team. […] While evaluating a child with ambiguous genitalia the primary concern should be […] Gender of rearing: Ideally a decision about gender of rearing should be made as early as possible but only after appropriate work up in the setting of a multidisciplinary team has been done. […] Care should be taken to avoid calling the baby baby boy or baby girl until appropriate work up is done and a decision has been made. […] Medical team should explain the process of sex determination and differentiation to the parents, and they should be given time to think about their choices.
  • #67 Infant with Ambiguous Genitalia – Pediatric Endocrine Society
    https://pedsendo.org/clinical-resource/infant-with-ambiguous-genitalia/
    Ambiguous genitalia: including bilateral cryptorchidism, hypospadias with unilateral cryptorchidism, posterior labial fusion Hyperpigmentation […] Urgent: All cases of ambiguous genitalia are considered an emergency and should be promptly referred to a pediatric endocrinology team with a multidisciplinary approach to these patients. […] Gender assignment is not done until evaluation is completed by the multidisciplinary team. […] While evaluating a child with ambiguous genitalia the primary concern should be […] Gender of rearing: Ideally a decision about gender of rearing should be made as early as possible but only after appropriate work up in the setting of a multidisciplinary team has been done. […] Care should be taken to avoid calling the baby baby boy or baby girl until appropriate work up is done and a decision has been made. […] Medical team should explain the process of sex determination and differentiation to the parents, and they should be given time to think about their choices.
  • #68 Atypical genitalia | Beacon Health System
    https://www.beaconhealthsystem.org/library/diseases-and-conditions/atypical-genitalia?content_id=CON-20369257
    Managing it may require a team of experts. […] Children with atypical genitalia need ongoing medical care. […] Mental health professionals can help you deal with this difference that you didn’t expect. […] Your medical team can provide you with updates and information as quickly as possible. […] If your baby is born with atypical genitalia, you may be referred to a medical center with doctors and other healthcare professionals who have expertise in managing this condition.
  • #69 Management of the infant with atypical genital appearance (difference of sex development) – UpToDate
    https://www.uptodate.com/contents/management-of-the-infant-with-atypical-genital-appearance-difference-of-sex-development
    Management of the infant with atypical genital appearance (difference of sex development) […] The birth of an infant with atypical genital appearance presents a unique set of challenging management issues. This is because psychosexual development is influenced by multiple factors, including the genes involved in sexual development, prenatal androgen exposure, societal and cultural factors, and family dynamics. In the past, decisions about sex of rearing were usually based on potential for reproduction and traditional sexual function and were often accompanied by complex genital surgery that can be difficult to reverse. Long-term outcome data are now available to help predict gender identity for many infants with specific DSD diagnoses and provide insight into appropriate early management decisions. Nonetheless, there is ongoing controversy about some aspects of management. The uncertainties about adult gender identity, optimal timing of surgery, and surgical outcomes including timing of surgery should be included in informed decision-making by the parents and patient (when age appropriate). Each child and family will have unique characteristics, so all decisions must be made on a case-by-case basis. Management at centers of excellence is associated with improved medical, surgical, and psychosexual outcomes. […] The management of infants with clinically significant DSD will be discussed here.
  • #70 Ambiguous Genitalia (Atypical Genitalia) | Children’s Hospital Colorado
    https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/ambiguous-genetalia/
    Ambiguous genitalia is also called atypical genitalia. Its considered a disorder or difference of sex development (DSD), a group of conditions (previously called intersex) that occur when biological sex and external genitalia dont match. […] The goal of treatment for ambiguous genitalia is to ensure your child has sexual and reproductive function as well as social and psychological well-being. Your childs treatment may include a team of experts, such as pediatric urologists, pediatric endocrinologists, geneticists, psychologists and social workers. […] Our Sex Development Outcomes Achieving Results (SOAR) Clinic cares for infants, children and young adults with disorders of sex development. Through our team approach, we offer comprehensive evaluation, medical and surgical care, psychological counseling, support and education for patients and families.
  • #71 Atypical genitalia – Symptoms and causes – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/symptoms-causes/syc-20369273
    Atypical genitalia is not a disease; it’s a difference of sex development. […] Your medical team looks for the cause of atypical genitalia and provides information and counseling that can help guide decisions about your baby’s sex and any needed treatment. […] Atypical genitalia usually happen when hormone changes during pregnancy stop or disturb an unborn baby’s developing sex organs. […] Sometimes it’s not possible to find the cause of atypical genitalia. […] If your family has a history of these risk factors, talk with your healthcare professional before trying to get pregnant. Genetic counseling also can help in planning ahead. […] Complications of atypical genitalia may include infertility. Whether people with atypical genitalia can have children depends on the specific diagnosis.
  • #72 Disorders of Sex Development – Stanford Medicine Children’s Health
    https://deprod.stanfordchildrens.org/en/topic/default?id=disorders-of-sex-development-90-P03079
    Making a correct determination of gender is important for treatment. But it’s also important for the child’s emotional well-being. Some children born with atypical genitalia may have normal internal sex organs that allow them to live normal, fertile lives. But others may have problems with fertility as adults.
  • #73 Disorders of Sex Development
    https://livinghealthy.hawaiipacifichealth.org/Library/News/Newsletters/Heart/90,P03079
    Making a correct determination of gender is important for treatment. But it’s also important for the child’s emotional well-being. Some children born with atypical genitalia may have normal internal sex organs that allow them to live normal, fertile lives. But others may have problems with fertility as adults.
  • #74 Pediatric ambiguous genitalia – Children’s Health Urology
    https://www.childrens.com/specialties-services/conditions/ambiguous-genitalia
    For girls with ambiguous genitalia, the sex organs may work normally despite the ambiguous outward appearance. If a girls vagina is hidden under her skin, surgery in childhood can help with sexual function later. […] Results of surgery are often good, but repeat surgeries may be needed later. […] Risks include a disappointing cosmetic result or sexual dysfunction.
  • #75 Pediatric ambiguous genitalia – Children’s Health Urology
    https://www.childrens.com/specialties-services/conditions/ambiguous-genitalia
    For girls with ambiguous genitalia, the sex organs may work normally despite the ambiguous outward appearance. If a girls vagina is hidden under her skin, surgery in childhood can help with sexual function later. […] Results of surgery are often good, but repeat surgeries may be needed later. […] Risks include a disappointing cosmetic result or sexual dysfunction.
  • #76 What Is Ambiguous Genitalia? Symptoms, Side Effects, and More
    https://www.webmd.com/children/what-is-ambiguous-genitalia
    Ambiguous genitalia, also called uncertain genitalia, atypical genitalia, ambiguous genitalia syndrome, or differences of sex development (DSD), is a condition present at birth. […] Atypical genitalia could look different in every case, depending on which sex chromosomes have been affected. […] Ambiguous genitalia treatment starts by determining the cause of the condition. After they determine the cause, your childs health care provider will help you figure out a treatment plan and a sex assignment. […] Treatment for ambiguous genitalia has many layers. In addition to the factors mentioned above, you should keep your childs emotional health at the top of your priority list. […] Those with atypical genitalia may still be able to have children depending on the cause of their condition. […] It’s hard to determine sexual expectations for children born with ambiguous genitalia. In addition to this condition, the brain also affects sexuality. This aspect of atypical genitalia is hard to predict.
  • #77 Management of ambiguous genitalia – O&G Magazine
    https://www.ogmagazine.org.au/19/3-19/management-ambiguous-genitalia/
    Although the commonest cause for ambiguous genitalia is congenital adrenal hyperplasia (CAH) in 46XX individuals, the diagnosis and management of patients with ambiguous genitalia can nevertheless be challenging and will require a multidisciplinary approach. […] A multidisciplinary approach, with clear communication to the family, is essential. Neonates presenting with ambiguous genitalia should be referred to paediatric endocrinology, paediatric surgery and, if necessary, paediatric gynaecology, for investigative planning. […] The management of ambiguous genitalia has changed over time. Many more babies are raised male now, where there has been under-virilisation of a 46XY baby. […] Your language and response as the first clinician involved with the family, baby, child or teenager is vitally important. Our society continues to place a lot of emphasis on gender. The family will need your supportive care in those first few days of uncertainty. Clear and open communication is essential.
  • #78 Ambiguous Genitalia
    https://azpediatricsurgery.com/conditions/ambiguous-genitalia
    Ambiguous genitalia is a rare condition where a newborn’s external genitalia do not appear clearly male or female. […] Early diagnosis and a multidisciplinary approach to treatment are essential for addressing the medical, psychological, and social aspects of this condition. […] Modern management focuses on a holistic approach that involves multidisciplinary teams including endocrinologists, geneticists, urologists, psychologists, and ethicists to guide families and individuals through diagnosis and care. […] If left untreated or improperly managed, ambiguous genitalia can lead to various complications: […] Psychological distress: Issues related to gender identity and social acceptance. […] Reproductive issues: Infertility or complications with sexual function. […] Medical complications: Risk of malignancies in undescended testes, undifferentiated gonads, or other affected tissues.
  • #79 Ambiguous Genitalia in Children: Causes, Diagnosis, and Treatment – Little Stars & She
    https://littlestarsandshe.com/ambiguous-genitalia-in-children-causes-diagnosis-and-treatment/
    Ambiguous genitalia is a rare congenital condition where a newborns external genitalia do not distinctly resemble male or female characteristics. Early intervention and a multidisciplinary approach are crucial for the childs well-being and proper development. […] Treatment is customized based on the underlying cause and may include: […] Multidisciplinary Care: Collaboration between endocrinologists, urologists, psychologists, and geneticists for a comprehensive treatment plan. […] Early identification and treatment ensure the childs physical, emotional, and psychological well-being, allowing them to lead healthy and fulfilling lives. […] Ambiguous genitalia is manageable with early diagnosis and treatment by experienced specialists. Seek expert care from Little Stars She Hospital for comprehensive pediatric endocrinology and urology support.
  • #80 Management of the infant with atypical genital appearance (difference of sex development) – UpToDate
    https://www.uptodate.com/contents/management-of-the-infant-with-atypical-genital-appearance-difference-of-sex-development
    Management of the infant with atypical genital appearance (difference of sex development) […] The birth of an infant with atypical genital appearance presents a unique set of challenging management issues. This is because psychosexual development is influenced by multiple factors, including the genes involved in sexual development, prenatal androgen exposure, societal and cultural factors, and family dynamics. In the past, decisions about sex of rearing were usually based on potential for reproduction and traditional sexual function and were often accompanied by complex genital surgery that can be difficult to reverse. Long-term outcome data are now available to help predict gender identity for many infants with specific DSD diagnoses and provide insight into appropriate early management decisions. Nonetheless, there is ongoing controversy about some aspects of management. The uncertainties about adult gender identity, optimal timing of surgery, and surgical outcomes including timing of surgery should be included in informed decision-making by the parents and patient (when age appropriate). Each child and family will have unique characteristics, so all decisions must be made on a case-by-case basis. Management at centers of excellence is associated with improved medical, surgical, and psychosexual outcomes. […] The management of infants with clinically significant DSD will be discussed here.
  • #81 A Call to Update Standard of Care for Children With Differences in Sex Development | Journal of Ethics | American Medical Association
    https://journalofethics.ama-assn.org/article/call-update-standard-care-children-differences-sex-development/2021-07
    For years, physicians have debated how best to care for children with differences in sex development (DSD, also termed intersex). […] Today, intersex children continue to receive early cosmetic genital surgery at medical institutions across the United States and worldwide. […] Many individuals upon whom these procedures were performed have come forward as adults to share their dissatisfaction and health complications. […] Supporting these stakeholder claims, many prominent national and international health organizations and legislative bodies have issued recommendations arguing for deferral of elective procedures until the child can actively participate in the decision-making process. […] Despite the stated positions of reputable health organizations and legislative bodies and anecdotal reports of suffering, a battle has engulfed the medical community regarding deferral of elective surgical interventions.
  • #82 A Call to Update Standard of Care for Children With Differences in Sex Development | Journal of Ethics | American Medical Association
    https://journalofethics.ama-assn.org/article/call-update-standard-care-children-differences-sex-development/2021-07
    For years, physicians have debated how best to care for children with differences in sex development (DSD, also termed intersex). […] Today, intersex children continue to receive early cosmetic genital surgery at medical institutions across the United States and worldwide. […] Many individuals upon whom these procedures were performed have come forward as adults to share their dissatisfaction and health complications. […] Supporting these stakeholder claims, many prominent national and international health organizations and legislative bodies have issued recommendations arguing for deferral of elective procedures until the child can actively participate in the decision-making process. […] Despite the stated positions of reputable health organizations and legislative bodies and anecdotal reports of suffering, a battle has engulfed the medical community regarding deferral of elective surgical interventions.
  • #83 A Call to Update Standard of Care for Children With Differences in Sex Development | Journal of Ethics | American Medical Association
    https://journalofethics.ama-assn.org/article/call-update-standard-care-children-differences-sex-development/2021-07
    For years, physicians have debated how best to care for children with differences in sex development (DSD, also termed intersex). […] Today, intersex children continue to receive early cosmetic genital surgery at medical institutions across the United States and worldwide. […] Many individuals upon whom these procedures were performed have come forward as adults to share their dissatisfaction and health complications. […] Supporting these stakeholder claims, many prominent national and international health organizations and legislative bodies have issued recommendations arguing for deferral of elective procedures until the child can actively participate in the decision-making process. […] Despite the stated positions of reputable health organizations and legislative bodies and anecdotal reports of suffering, a battle has engulfed the medical community regarding deferral of elective surgical interventions.
  • #84 A Call to Update Standard of Care for Children With Differences in Sex Development | Journal of Ethics | American Medical Association
    https://journalofethics.ama-assn.org/article/call-update-standard-care-children-differences-sex-development/2021-07
    Harms cited that can carry significant implications as a child matures include a sex assigned at birth that does not align with the individuals eventual gender identity and surgical complications that affect sexual functioning. […] Organizations have repeatedly found that the data are insufficient to support DSD procedures as necessary, beneficial, or safe. […] The latest and most rigorous study that assesses long-term outcomes of patients with DSD appropriately compares large samples of individuals who did and did not have surgical interventions. […] These results support deferral of intervention, as DSD individuals were more likely to change assigned gender than the general population. […] We call on clinicians to heed these repetitive calls to action and to recognize that when an individual is born with atypical genitalia that poses no physical risk, treatment should focus not on surgical intervention but on psychosocial and educational support for the family and child.
  • #85 Atypical genitalia – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/diagnosis-treatment/drc-20369278
    Atypical genitalia is usually diagnosed at birth or shortly after. […] If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. […] The goal of treatment is long-term mental health and social well-being, as well as having as much sexual function and fertility as possible. […] Atypical genitalia is complex and not common. Managing it may require a team of experts. […] Hormone medicines may help correct or manage hormones that are out of balance. […] In children with atypical genitalia, surgery may be used to keep healthy sexual function and create genitals that appear more typical. […] Children with atypical genitalia need ongoing medical care. […] If your baby has atypical genitalia, you may worry about the baby’s future. […] Your child may find ongoing counseling by mental health professionals helpful and may choose to be a part of support groups into adulthood. […] Consider waiting to make a formal announcement of the birth until testing is done and you’ve created a plan with advice from your medical team.
  • #86 Atypical genitalia – Diagnosis and treatment – Mayo Clinic
    https://www.mayoclinic.org/diseases-conditions/atypical-genitalia/diagnosis-treatment/drc-20369278
    Atypical genitalia is usually diagnosed at birth or shortly after. […] If your baby is born with atypical genitalia, your doctor and other healthcare professionals work to find the cause. […] The goal of treatment is long-term mental health and social well-being, as well as having as much sexual function and fertility as possible. […] Atypical genitalia is complex and not common. Managing it may require a team of experts. […] Hormone medicines may help correct or manage hormones that are out of balance. […] In children with atypical genitalia, surgery may be used to keep healthy sexual function and create genitals that appear more typical. […] Children with atypical genitalia need ongoing medical care. […] If your baby has atypical genitalia, you may worry about the baby’s future. […] Your child may find ongoing counseling by mental health professionals helpful and may choose to be a part of support groups into adulthood. […] Consider waiting to make a formal announcement of the birth until testing is done and you’ve created a plan with advice from your medical team.
  • #87 Atypical genitalia | Beacon Health System
    https://www.beaconhealthsystem.org/library/diseases-and-conditions/atypical-genitalia?content_id=CON-20369257
    Managing it may require a team of experts. […] Children with atypical genitalia need ongoing medical care. […] Mental health professionals can help you deal with this difference that you didn’t expect. […] Your medical team can provide you with updates and information as quickly as possible. […] If your baby is born with atypical genitalia, you may be referred to a medical center with doctors and other healthcare professionals who have expertise in managing this condition.
  • #88 Disorders of Sex Development – Stanford Medicine Children’s Health
    https://deprod.stanfordchildrens.org/en/topic/default?id=disorders-of-sex-development-90-P03079
    When a child’s gender is not clear at birth, the child has atypical genitalia (ambiguous genitalia). This means that the genitals don’t seem to be clearly male or female. […] Atypical genitalia can be a difficult experience for families. […] Atypical genitalia can have a number of different causes. In many cases, healthcare providers dont know the cause. It seems to occur by chance. […] Children who are born with atypical genitalia may fall into one of these groups. […] Treatment for atypical genitalia depends of the type of the disorder. But it often includes surgery to remove or create sex organs appropriate for the child’s gender. Treatment may also include hormone therapy. […] Most important, you and your family should be included early in the decision of assigning the child’s sex. Ask your healthcare provider about what is available for long-term psychological support.
  • #89 Disorders of Sex Development – Stanford Medicine Children’s Health
    https://deprod.stanfordchildrens.org/en/topic/default?id=disorders-of-sex-development-90-P03079
    When a child’s gender is not clear at birth, the child has atypical genitalia (ambiguous genitalia). This means that the genitals don’t seem to be clearly male or female. […] Atypical genitalia can be a difficult experience for families. […] Atypical genitalia can have a number of different causes. In many cases, healthcare providers dont know the cause. It seems to occur by chance. […] Children who are born with atypical genitalia may fall into one of these groups. […] Treatment for atypical genitalia depends of the type of the disorder. But it often includes surgery to remove or create sex organs appropriate for the child’s gender. Treatment may also include hormone therapy. […] Most important, you and your family should be included early in the decision of assigning the child’s sex. Ask your healthcare provider about what is available for long-term psychological support.
  • #90 Ambiguous genitalia: MedlinePlus Medical EncyclopediaLock
    https://medlineplus.gov/ency/article/003269.htm
    Ambiguous genitalia is a rare condition where a child is born with outer genitals that do not clearly look either male or female. […] This condition is also called uncertain genitalia or atypical genitalia. […] Ambiguous genitalia is common in children with differences of sex development (DSD). […] With a few exceptions, ambiguous genitalia is most often not life-threatening. However, its treatment has short- and long-term consequences. For this reason, a team of health care professionals with expertise in DSD will work together to understand and treat the child and support the family. […] Depending on the cause, surgery, hormone replacement, or other treatments are used to treat conditions that can cause ambiguous genitalia. […] Many experts now urge delaying definitive surgery for as long as is healthy, and ideally involving the child in the decision, unless surgery is needed for the health of the infant. Working with your child’s heath care team can help you make the best choices for your child.
  • #91 Disorders of Sexual Differentiation Program – Children’s Hospital of Orange County
    https://choc.org/programs-services/urology/disorders-sexual-differentiation-program/
    Treatments for disorders of sexual differentiation (DSD) vary depending on the degree and type of disorder. Each treatment plan is individualized to each child and their family. This is done by maintaining a close relationship between the family and the specialists at the CHOC Urology Center Disorders of Sexual Differentiation Program. The child’s family is directly involved in every step and decision made regarding their child’s care. […] With proper medical, surgical and psychosocial care, most children with disorders of sexual differentiation (DSD) lead healthy, normal lives. Making an educated determination of the child’s sex is important both for treatment purposes, as well as for the emotional well-being of the child.