Zespół turnera
Zapobieganie i profilaktyka
Zespół Turnera, występujący u około 1 na 2500-3000 żywych urodzeń dziewczynek, jest spowodowany całkowitym lub częściowym brakiem jednego chromosomu X i nie jest schorzeniem dziedzicznym. Kluczowe w opiece nad pacjentkami jest wczesne wdrożenie terapii hormonem wzrostu (już od 12-24 miesiąca życia) w celu zapobiegania niskorosłości oraz estrogenowo-progesteronowej terapii hormonalnej w okresie przedpokwitaniowym, która stymuluje rozwój płciowy i zapobiega osteoporozie. Profilaktyka osteoporozy obejmuje suplementację wapnia (1,0-1,5 g/dobę) i witaminy D (≥400 IU/dobę) od 10. roku życia oraz regularną aktywność fizyczną. Ze względu na wysokie ryzyko powikłań sercowo-naczyniowych, w tym nadciśnienia tętniczego, konieczne jest regularne monitorowanie ciśnienia krwi oraz ocena funkcji serca i nerek, a u pacjentek z wadami zastawkowymi rozważenie profilaktyki infekcyjnego zapalenia wsierdzia przed zabiegami inwazyjnymi.
- Zapobieganie zespołu Turnera
- Profilaktyka powikłań w zespole Turnera
- Profilaktyka kardiologiczna
- Terapia hormonalna jako działanie profilaktyczne
- Profilaktyka osteoporozy
- Profilaktyka zaburzeń metabolicznych
- Profilaktyka innych powikłań
- Wsparcie psychologiczne i planowanie reprodukcyjne
- Multidyscyplinarna opieka jako klucz do profilaktyki
Zapobieganie zespołu Turnera
Zespół Turnera to zaburzenie genetyczne, które występuje z częstością około 1 na 2500-3000 żywych urodzeń dziewczynek i jest spowodowane całkowitym lub częściowym brakiem jednego chromosomu X. Niestety, nie ma możliwości zapobiegania wystąpieniu tego zespołu, ponieważ jest on wynikiem losowego błędu genetycznego, który pojawia się przed poczęciem lub krótko po nim.12
Warto podkreślić, że zespół Turnera nie jest dziedziczny i najczęściej występuje sporadycznie. Rodzice nie mogą zrobić nic, aby zapobiec wystąpieniu tego błędu chromosomowego, i nie ponoszą żadnej winy za jego wystąpienie.34 Kobieta, która urodziła dziecko z zespołem Turnera, nie ma zwiększonego ryzyka urodzenia kolejnego dziecka z tym schorzeniem.5
Profilaktyka powikłań w zespole Turnera
Chociaż nie można zapobiec wystąpieniu zespołu Turnera, można wdrożyć szereg działań profilaktycznych, które pomogą zapobiec lub zminimalizować powikłania zdrowotne związane z tym zespołem. Regularne kontrole lekarskie i wczesne wdrażanie odpowiedniego leczenia mają kluczowe znaczenie.67
Profilaktyka kardiologiczna
Schorzenia sercowo-naczyniowe są główną przyczyną zgonów u pacjentek z zespołem Turnera, dlatego ich wczesne wykrywanie i leczenie jest priorytetem.8 Regularne monitorowanie ciśnienia tętniczego krwi jest konieczne ze względu na częste występowanie nadciśnienia u pacjentek z zespołem Turnera, które może być związane z chorobami serca lub nerek.9
U pacjentek z wadami zastawkowymi serca może być wymagana profilaktyka infekcyjnego zapalenia wsierdzia (SBE) przed zabiegami stomatologicznymi lub chirurgicznymi.10
Terapia hormonalna jako działanie profilaktyczne
Terapia hormonem wzrostu jest standardowym postępowaniem w dzieciństwie, aby zapobiec niskorosłości w wieku dorosłym.11 Leczenie powinno być rozpoczęte we wczesnym dzieciństwie, nawet już w wieku 12-24 miesięcy, gdyż dłuższy czas terapii przed rozpoczęciem dojrzewania daje lepsze efekty końcowe wzrostu.1213
Terapia estrogenowo-progesteronowa jest kluczowa z dwóch powodów:
- Stymulacja rozwoju płciowego i wystąpienia miesiączki14
- Zapobieganie osteoporozie (utracie masy kostnej), która jest częstym problemem u pacjentek z zespołem Turnera1516
Terapię estrogenową należy rozpocząć w okresie przedpokwitaniowym, typowo w wieku nastoletnim.17 Należy jednak uważać, aby nie rozpocząć jej zbyt wcześnie lub nie stosować zbyt wysokich dawek, gdyż może to negatywnie wpłynąć na końcowy wzrost pacjentki.18
Profilaktyka osteoporozy
Zarówno niskorosłość, jak i niewydolność jajników są czynnikami ryzyka osteoporozy u pacjentek z zespołem Turnera. Poza terapią hormonalną, profilaktyka osteoporozy powinna obejmować:19
- Odpowiednią podaż wapnia (1,0-1,5 g dziennie)20
- Suplementację witaminy D (co najmniej 400 IU dziennie)21
- Regularna aktywność fizyczna, która dodatkowo pomaga zapobiegać otyłości22
- Suplementację wapnia i witaminy D należy rozpocząć już w wieku 10 lat23
Profilaktyka zaburzeń metabolicznych
Pacjentki z zespołem Turnera mają zwiększone ryzyko wystąpienia zaburzeń metabolicznych, dlatego zaleca się:24
- Regularne badania poziomu glukozy we krwi lub moczu, aby wykryć cukrzycę25
- Monitorowanie funkcji tarczycy, gdyż pacjentki mają zwiększone ryzyko niedoczynności tarczycy (hipotyreozy)26
- Zapobieganie otyłości, która zwiększa i tak już wysokie ryzyko nadciśnienia i insulinooporności27
Profilaktyka innych powikłań
W kompleksowej opiece nad pacjentkami z zespołem Turnera należy również uwzględnić:28
- Regularne badania ultrasonograficzne nerek, gdyż istnieje zwiększone ryzyko rozwoju guza Wilmsa29
- Leczenie zakażeń ucha środkowego z udziałem specjalisty otolaryngologa, aby zminimalizować ryzyko problemów ze słuchem w późniejszym życiu30
- W przypadku pacjentek z dysgenezją gonad i mozaicyzmem z linią komórkową zawierającą chromosom Y (np. 45,X/46,XY), należy rozważyć profilaktyczne usunięcie gonad ze względu na zwiększone ryzyko rozwoju nowotworów, w szczególności gonadoblastoma31
Wsparcie psychologiczne i planowanie reprodukcyjne
Istotnym elementem profilaktyki jest również wsparcie psychologiczne oraz odpowiednie poradnictwo dotyczące płodności:32
- Terapia psychologiczna, w tym poradnictwo lub terapia poznawczo-behawioralna (CBT), może być zalecana w celu wsparcia emocjonalnego33
- Poradnictwo dotyczące zdrowia seksualnego i antykoncepcji, gdyż mniejszość pacjentek może spontanicznie zajść w ciążę34
- Poradnictwo dotyczące technik wspomaganego rozrodu (np. in vitro) dla pacjentek planujących ciążę35
Należy pamiętać, że pacjentki z zespołem Turnera, które mogą zajść w ciążę, wymagają szczególnej opieki ze względu na zwiększone ryzyko powikłań związanych z ciśnieniem krwi, przedwczesnego porodu, ograniczenia wzrostu płodu oraz poważnych powikłań naczyniowych, w tym rozwarstwienia i pęknięcia aorty.36
Multidyscyplinarna opieka jako klucz do profilaktyki
Ze względu na złożoność i wielonarządowy charakter zespołu Turnera, kluczowym elementem profilaktyki powikłań jest multidyscyplinarna opieka medyczna.37 Lekarze rodzinni mogą odgrywać ważną rolę w koordynowaniu tej opieki oraz w bezpośrednim zarządzaniu czynnikami ryzyka i powikłaniami takimi jak niepłodność, powikłania sercowo-naczyniowe czy osteoporoza.38
W niektórych ośrodkach dostępne są specjalistyczne kliniki zajmujące się opieką nad dziewczętami i kobietami z zespołem Turnera, oferujące dostęp do różnych specjalistów.39 Leczenie powinno być zindywidualizowane, a decyzje terapeutyczne podejmowane wspólnie przez lekarzy, rodziny i pacjentki.40
Chociaż nie można wyleczyć zespołu Turnera, dzięki odpowiedniej profilaktyce i leczeniu, większość dziewcząt i kobiet z tym zespołem może prowadzić normalne, zdrowe i produktywne życie.4142
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Materiały źródłowe
- #1 Turner Syndrome: What It Is, Causes, Symptoms & Treatmenthttps://my.clevelandclinic.org/health/diseases/15200-turner-syndrome
Theres nothing you can do to prevent Turner syndrome. It happens randomly at conception. Biological parents cant do anything to stop it from happening and its not their fault.
- #2 What Is Turner Syndrome? Symptoms, Causes, Diagnosis, Treatment, and Preventionhttps://www.everydayhealth.com/turner-syndrome/guide/
Theres no way to prevent Turner syndrome. Its caused by a random genetic error that leads to a missing X chromosome in the fathers sperm or the mothers egg. (8) […] Parents cant prevent the genetic error from happening.
- #3 Content – Health Encyclopedia – University of Rochester Medical Centerhttps://www.urmc.rochester.edu/encyclopedia/content?contenttypeid=90&contentid=p02421
Researchers dont know how to prevent the chromosome error that causes this disorder. […] Experts dont know how to prevent the chromosome error that causes TS. It often happens by chance during conception. It does not often run in families.
- #4 Turner Syndrome (Monosomy X) | Valley Children’s Healthcarehttps://www.valleychildrens.org/services/diabetes-and-endocrinology/conditions-we-treat/turner-syndrome
Researchers dont know how to prevent the chromosome error that causes this disorder. […] In general, a woman who has a child with Turner syndrome is not at increased risk of having another baby with the condition. […] TS is often not inherited in families. It happens randomly.
- #5 Turner Syndrome (Monosomy X) in Childrenhttps://healthlibrary.uwmedicine.org/Search/90,P02421
Researchers dont know how to prevent the chromosome error that causes this disorder. In general, a woman who has a child with Turner syndrome is not at increased risk of having another baby with the condition. TS is often not inherited in families. It happens randomly.
- #6 Turner Syndrome Treatment & Management: Medical Care, Surgical Care, Consultationshttps://emedicine.medscape.com/article/949681-treatment
Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions. Health supervision involves careful medical follow-up care, which includes screening for commonly associated chronic diseases. Early preventive care and treatment are also essential. […] In childhood, growth hormone therapy is standard to prevent short stature as an adult. […] Estrogen replacement therapy is usually required, but starting too early or using doses that are too high can compromise adult height. […] Subacute bacterial endocarditis (SBE) prophylaxis may be required prior to any dental or surgical procedure in women with cardiac valve disease to prevent SBE. […] Attention should be paid to growth and development, thyroid status, and osteoporosis prevention with growth hormone, estrogens, and progestins. […] Both short stature and ovarian failure are risk factors for osteoporosis, and care should be taken to ensure adequate daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU). […] Physical activity should be encouraged as prevention for obesity and osteoporosis.
- #7 Turner syndrome: Symptoms, causes, and treatmenthttps://www.medicalnewstoday.com/articles/176083
Early preventive care is important to reduce the risk of complications. Blood pressure and the thyroid gland need frequent monitoring, and any necessary treatment must be given immediately. […] Treatment for inner ear infections with an ear nose and throat (ENT) specialist can minimize the risk of hearing difficulties later in life. […] Growth hormone therapy should start if the girl does not grow normally, to prevent short stature and social stigmatization later in life. […] Estrogen and progesterone replacement therapy will enable sexual development and reduce the risk of osteoporosis. […] In-vitro fertilization (IVF) will be necessary if the individual wishes to become pregnant. Any pregnancy will need close monitoring, because of the extra strain on the heart and blood vessels. […] Early intervention increases the chance of solving these problems before they occur.
- #8 New International Guidelines on Turner Syndrome | ESPE2019 | 58th Annual ESPE (ESPE 2019) | ESPE Abstractshttps://abstracts.eurospe.org/hrp/0092/hrp0092mte3
Turner syndrome (TS) affects 25-50 per 100,000 females and can involve multiple organs through all stages of life, necessitating a multidisciplinary approach to care. […] Prevention, intervention and proper treatment is only just being recognized. […] Morbidity and mortality is quite elevated and many conditions need to be vigorously and routinely checked for and diagnosed as early as possible in order to prevent long-term health consequences. […] Congenital and acquired heart related morbidity remain the leading cause of death in TS and much of this morbidity can be prevented.
- #9https://www.nhs.uk/conditions/turner-syndrome/treatment/
There’s no cure for Turner syndrome but many of the associated symptoms can be treated. […] Regular health checks and preventative care and treatment are important for girls and women with Turner syndrome. This is because of the risk of complications. […] High blood pressure (hypertension) is quite common in women with Turner syndrome, so it’s important blood pressure is checked regularly and treated, if necessary. This may be related to underlying heart or kidney problems. […] Thyroid function tests can be used to assess how well the thyroid gland is working, as girls with Turner syndrome have a slightly increased risk of having an underactive thyroid (hypothyroidism). […] Women with Turner syndrome may need to have their glucose levels in their blood or pee checked to screen for diabetes.
- #10 Turner Syndrome Treatment & Management: Medical Care, Surgical Care, Consultationshttps://emedicine.medscape.com/article/949681-treatment
Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions. Health supervision involves careful medical follow-up care, which includes screening for commonly associated chronic diseases. Early preventive care and treatment are also essential. […] In childhood, growth hormone therapy is standard to prevent short stature as an adult. […] Estrogen replacement therapy is usually required, but starting too early or using doses that are too high can compromise adult height. […] Subacute bacterial endocarditis (SBE) prophylaxis may be required prior to any dental or surgical procedure in women with cardiac valve disease to prevent SBE. […] Attention should be paid to growth and development, thyroid status, and osteoporosis prevention with growth hormone, estrogens, and progestins. […] Both short stature and ovarian failure are risk factors for osteoporosis, and care should be taken to ensure adequate daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU). […] Physical activity should be encouraged as prevention for obesity and osteoporosis.
- #11 Turner Syndrome: Practice Essentials, Background, Pathophysiologyhttps://emedicine.medscape.com/article/949681-overview
Patients with Turner syndrome require screening for commonly associated chronic diseases. Early preventive care and treatment are also essential. […] In childhood, growth hormone therapy is standard to prevent short stature as an adult. […] Ideally treatment should be initiated in early childhood; taller adult heights occur with the longest treatment durations before the start of puberty. […] Estrogen replacement therapy is usually required, but starting too early or using doses that are too high can compromise adult height. […] Both short stature and ovarian failure are risk factors for osteoporosis, and care should be taken to ensure adequate daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU). […] Patients should avoid obesity, which increases already high risks of hypertension and insulin resistance.
- #12 Turner Syndrome: Diagnosis and Management | AAFPhttps://www.aafp.org/pubs/afp/issues/2007/0801/p405.html
Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. […] Patients are treated for short stature in early childhood with growth hormone therapy, and supplemental estrogen is initiated by adolescence for pubertal development and prevention of osteoporosis. […] Ongoing estrogen therapy should be initiated in the preteen years. […] Calcium and vitamin D supplementation should be initiated at 10 years of age. […] Given the complexity and multisystem nature of Turner syndrome, family physicians can play an important role in coordinating multidisciplinary management and in directly managing risk factors and complications (e.g., infertility, cardiovascular complications, osteoporosis). […] The key aspects of managing Turner syndrome in children are cardiovascular monitoring and treatment of congenital heart disease; growth hormone therapy to augment linear growth (as early as 12 to 24 months of age); and supplemental estrogen therapy for sexual development and preservation of bone mineral density (typically initiated in the preteen years).
- #13 Turner Syndrome: Practice Essentials, Background, Pathophysiologyhttps://emedicine.medscape.com/article/949681-overview
Patients with Turner syndrome require screening for commonly associated chronic diseases. Early preventive care and treatment are also essential. […] In childhood, growth hormone therapy is standard to prevent short stature as an adult. […] Ideally treatment should be initiated in early childhood; taller adult heights occur with the longest treatment durations before the start of puberty. […] Estrogen replacement therapy is usually required, but starting too early or using doses that are too high can compromise adult height. […] Both short stature and ovarian failure are risk factors for osteoporosis, and care should be taken to ensure adequate daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU). […] Patients should avoid obesity, which increases already high risks of hypertension and insulin resistance.
- #14 Turner’s syndrome | Better Health Channelhttps://www.betterhealth.vic.gov.au/health/conditionsandtreatments/turners-syndrome
With appropriate medical treatment and support, a girl or woman with Turners syndrome can lead a normal, healthy and productive life. […] Treatment aims to correct any physical defects and help bring about puberty. […] Treatment aims to correct any physical defects and help bring about puberty. Options include: surgery to correct any heart defects, growth hormone therapy to increase height, hormone replacement therapy to trigger menstruation and the development of secondary sexual characteristics such as breasts, regular monitoring to check hormone levels, regular follow-up and management of medical conditions, treatment for the management of complications such as high blood pressure, assisted reproduction.
- #15https://www.nhs.uk/conditions/turner-syndrome/treatment/
Women with Turner syndrome have an increased risk of developing brittle bones (osteoporosis) in late adulthood. […] A specialist in hormone-related conditions (endocrinologist) will carry out tests and checks on a regular basis. They’ll also be able to recommend appropriate treatment, such as growth hormone therapy. […] Oestrogen and progesterone replacement therapy may also be recommended. Oestrogen and progesterone are the female hormones responsible for sexual development. Oestrogen also helps prevent brittle bones (osteoporosis). […] Most women with Turner syndrome are unable to have children (infertile). A minority will be able to conceive naturally, so girls and women with Turner syndrome should have access to sexual health and contraception advice. […] Psychological therapy, such as counselling or cognitive behavioural therapy (CBT), may be recommended.
- #16https://www.sgh.com.sg/patient-care/conditions-treatments/turner-syndrome
TS occurs when all or part of one of the X chromosomes is absent or altered before or soon after the time of conception. It is not connected to or passed on from either parent, and there is nothing a person can do to increase or decrease the likelihood of their child having TS. […] While it is not possible to cure TS, much can be done to make sure your child has the best possible outcome. […] Treatment for those with TS should be individualised. Doctors, families and patients should decide on treatment options together. […] Oestrogen therapy is also important for the prevention of osteoporosis.
- #17 Turner Syndrome: Diagnosis and Management | AAFPhttps://www.aafp.org/pubs/afp/issues/2007/0801/p405.html
Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. […] Patients are treated for short stature in early childhood with growth hormone therapy, and supplemental estrogen is initiated by adolescence for pubertal development and prevention of osteoporosis. […] Ongoing estrogen therapy should be initiated in the preteen years. […] Calcium and vitamin D supplementation should be initiated at 10 years of age. […] Given the complexity and multisystem nature of Turner syndrome, family physicians can play an important role in coordinating multidisciplinary management and in directly managing risk factors and complications (e.g., infertility, cardiovascular complications, osteoporosis). […] The key aspects of managing Turner syndrome in children are cardiovascular monitoring and treatment of congenital heart disease; growth hormone therapy to augment linear growth (as early as 12 to 24 months of age); and supplemental estrogen therapy for sexual development and preservation of bone mineral density (typically initiated in the preteen years).
- #18 Turner Syndrome Treatment & Management: Medical Care, Surgical Care, Consultationshttps://emedicine.medscape.com/article/949681-treatment
Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions. Health supervision involves careful medical follow-up care, which includes screening for commonly associated chronic diseases. Early preventive care and treatment are also essential. […] In childhood, growth hormone therapy is standard to prevent short stature as an adult. […] Estrogen replacement therapy is usually required, but starting too early or using doses that are too high can compromise adult height. […] Subacute bacterial endocarditis (SBE) prophylaxis may be required prior to any dental or surgical procedure in women with cardiac valve disease to prevent SBE. […] Attention should be paid to growth and development, thyroid status, and osteoporosis prevention with growth hormone, estrogens, and progestins. […] Both short stature and ovarian failure are risk factors for osteoporosis, and care should be taken to ensure adequate daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU). […] Physical activity should be encouraged as prevention for obesity and osteoporosis.
- #19 Turner Syndrome Treatment & Management: Medical Care, Surgical Care, Consultationshttps://emedicine.medscape.com/article/949681-treatment
Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions. Health supervision involves careful medical follow-up care, which includes screening for commonly associated chronic diseases. Early preventive care and treatment are also essential. […] In childhood, growth hormone therapy is standard to prevent short stature as an adult. […] Estrogen replacement therapy is usually required, but starting too early or using doses that are too high can compromise adult height. […] Subacute bacterial endocarditis (SBE) prophylaxis may be required prior to any dental or surgical procedure in women with cardiac valve disease to prevent SBE. […] Attention should be paid to growth and development, thyroid status, and osteoporosis prevention with growth hormone, estrogens, and progestins. […] Both short stature and ovarian failure are risk factors for osteoporosis, and care should be taken to ensure adequate daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU). […] Physical activity should be encouraged as prevention for obesity and osteoporosis.
- #20 Turner Syndrome: Practice Essentials, Background, Pathophysiologyhttps://emedicine.medscape.com/article/949681-overview
Patients with Turner syndrome require screening for commonly associated chronic diseases. Early preventive care and treatment are also essential. […] In childhood, growth hormone therapy is standard to prevent short stature as an adult. […] Ideally treatment should be initiated in early childhood; taller adult heights occur with the longest treatment durations before the start of puberty. […] Estrogen replacement therapy is usually required, but starting too early or using doses that are too high can compromise adult height. […] Both short stature and ovarian failure are risk factors for osteoporosis, and care should be taken to ensure adequate daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU). […] Patients should avoid obesity, which increases already high risks of hypertension and insulin resistance.
- #21 Turner Syndrome: Practice Essentials, Background, Pathophysiologyhttps://emedicine.medscape.com/article/949681-overview
Patients with Turner syndrome require screening for commonly associated chronic diseases. Early preventive care and treatment are also essential. […] In childhood, growth hormone therapy is standard to prevent short stature as an adult. […] Ideally treatment should be initiated in early childhood; taller adult heights occur with the longest treatment durations before the start of puberty. […] Estrogen replacement therapy is usually required, but starting too early or using doses that are too high can compromise adult height. […] Both short stature and ovarian failure are risk factors for osteoporosis, and care should be taken to ensure adequate daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU). […] Patients should avoid obesity, which increases already high risks of hypertension and insulin resistance.
- #22 Turner Syndrome Treatment & Management: Medical Care, Surgical Care, Consultationshttps://emedicine.medscape.com/article/949681-treatment
Turner syndrome is a lifelong condition. Most people live long and healthy lives, yet some are susceptible to numerous chronic conditions. Health supervision involves careful medical follow-up care, which includes screening for commonly associated chronic diseases. Early preventive care and treatment are also essential. […] In childhood, growth hormone therapy is standard to prevent short stature as an adult. […] Estrogen replacement therapy is usually required, but starting too early or using doses that are too high can compromise adult height. […] Subacute bacterial endocarditis (SBE) prophylaxis may be required prior to any dental or surgical procedure in women with cardiac valve disease to prevent SBE. […] Attention should be paid to growth and development, thyroid status, and osteoporosis prevention with growth hormone, estrogens, and progestins. […] Both short stature and ovarian failure are risk factors for osteoporosis, and care should be taken to ensure adequate daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU). […] Physical activity should be encouraged as prevention for obesity and osteoporosis.
- #23 Turner Syndrome: Diagnosis and Management | AAFPhttps://www.aafp.org/pubs/afp/issues/2007/0801/p405.html
Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. […] Patients are treated for short stature in early childhood with growth hormone therapy, and supplemental estrogen is initiated by adolescence for pubertal development and prevention of osteoporosis. […] Ongoing estrogen therapy should be initiated in the preteen years. […] Calcium and vitamin D supplementation should be initiated at 10 years of age. […] Given the complexity and multisystem nature of Turner syndrome, family physicians can play an important role in coordinating multidisciplinary management and in directly managing risk factors and complications (e.g., infertility, cardiovascular complications, osteoporosis). […] The key aspects of managing Turner syndrome in children are cardiovascular monitoring and treatment of congenital heart disease; growth hormone therapy to augment linear growth (as early as 12 to 24 months of age); and supplemental estrogen therapy for sexual development and preservation of bone mineral density (typically initiated in the preteen years).
- #24https://www.nhs.uk/conditions/turner-syndrome/treatment/
There’s no cure for Turner syndrome but many of the associated symptoms can be treated. […] Regular health checks and preventative care and treatment are important for girls and women with Turner syndrome. This is because of the risk of complications. […] High blood pressure (hypertension) is quite common in women with Turner syndrome, so it’s important blood pressure is checked regularly and treated, if necessary. This may be related to underlying heart or kidney problems. […] Thyroid function tests can be used to assess how well the thyroid gland is working, as girls with Turner syndrome have a slightly increased risk of having an underactive thyroid (hypothyroidism). […] Women with Turner syndrome may need to have their glucose levels in their blood or pee checked to screen for diabetes.
- #25https://www.nhs.uk/conditions/turner-syndrome/treatment/
There’s no cure for Turner syndrome but many of the associated symptoms can be treated. […] Regular health checks and preventative care and treatment are important for girls and women with Turner syndrome. This is because of the risk of complications. […] High blood pressure (hypertension) is quite common in women with Turner syndrome, so it’s important blood pressure is checked regularly and treated, if necessary. This may be related to underlying heart or kidney problems. […] Thyroid function tests can be used to assess how well the thyroid gland is working, as girls with Turner syndrome have a slightly increased risk of having an underactive thyroid (hypothyroidism). […] Women with Turner syndrome may need to have their glucose levels in their blood or pee checked to screen for diabetes.
- #26https://www.nhs.uk/conditions/turner-syndrome/treatment/
There’s no cure for Turner syndrome but many of the associated symptoms can be treated. […] Regular health checks and preventative care and treatment are important for girls and women with Turner syndrome. This is because of the risk of complications. […] High blood pressure (hypertension) is quite common in women with Turner syndrome, so it’s important blood pressure is checked regularly and treated, if necessary. This may be related to underlying heart or kidney problems. […] Thyroid function tests can be used to assess how well the thyroid gland is working, as girls with Turner syndrome have a slightly increased risk of having an underactive thyroid (hypothyroidism). […] Women with Turner syndrome may need to have their glucose levels in their blood or pee checked to screen for diabetes.
- #27 Turner Syndrome: Practice Essentials, Background, Pathophysiologyhttps://emedicine.medscape.com/article/949681-overview
Patients with Turner syndrome require screening for commonly associated chronic diseases. Early preventive care and treatment are also essential. […] In childhood, growth hormone therapy is standard to prevent short stature as an adult. […] Ideally treatment should be initiated in early childhood; taller adult heights occur with the longest treatment durations before the start of puberty. […] Estrogen replacement therapy is usually required, but starting too early or using doses that are too high can compromise adult height. […] Both short stature and ovarian failure are risk factors for osteoporosis, and care should be taken to ensure adequate daily intake of calcium (1.0-1.5 g) and vitamin D (at least 400 IU). […] Patients should avoid obesity, which increases already high risks of hypertension and insulin resistance.
- #28 Turner Syndrome: Symptoms and Treatment | Doctorhttps://patient.info/doctor/turner-syndrome-pro
Turner syndrome is obviously a lifelong condition and, although the majority of patients are healthy, they are susceptible to a number of chronic conditions. For this reason, multidisciplinary follow-up is required as an exercise in screening and prevention, as well as treatment where necessary. […] Regular renal ultrasound, and screening for impaired glucose tolerance and hypertension are recommended. […] Shared care should include: […] Prevention of osteoporosis. […] There is an increased risk of Wilms’ tumour. Annual renal function tests and electrolytes, and urine culture are recommended.
- #29 Turner Syndrome: Symptoms and Treatment | Doctorhttps://patient.info/doctor/turner-syndrome-pro
Turner syndrome is obviously a lifelong condition and, although the majority of patients are healthy, they are susceptible to a number of chronic conditions. For this reason, multidisciplinary follow-up is required as an exercise in screening and prevention, as well as treatment where necessary. […] Regular renal ultrasound, and screening for impaired glucose tolerance and hypertension are recommended. […] Shared care should include: […] Prevention of osteoporosis. […] There is an increased risk of Wilms’ tumour. Annual renal function tests and electrolytes, and urine culture are recommended.
- #30 Turner syndrome: Symptoms, causes, and treatmenthttps://www.medicalnewstoday.com/articles/176083
Early preventive care is important to reduce the risk of complications. Blood pressure and the thyroid gland need frequent monitoring, and any necessary treatment must be given immediately. […] Treatment for inner ear infections with an ear nose and throat (ENT) specialist can minimize the risk of hearing difficulties later in life. […] Growth hormone therapy should start if the girl does not grow normally, to prevent short stature and social stigmatization later in life. […] Estrogen and progesterone replacement therapy will enable sexual development and reduce the risk of osteoporosis. […] In-vitro fertilization (IVF) will be necessary if the individual wishes to become pregnant. Any pregnancy will need close monitoring, because of the extra strain on the heart and blood vessels. […] Early intervention increases the chance of solving these problems before they occur.
- #31 Turner Syndrome – Pediatrics – Merck Manual Professional Editionhttps://www.merckmanuals.com/professional/pediatrics/chromosome-and-gene-abnormalities/turner-syndrome
Cytogenetic analysis and Y-specific probe studies are done for all people with gonadal dysgenesis to rule out mosaicism with a Y-bearing cell line (eg, 45,X/46,XY). These people are usually phenotypic females who may have variable features of Turner syndrome. They are at an increased risk of gonadal tumors, especially gonadoblastomas, some of which may become malignant. Because of this potential for cancer, prophylactic gonad removal, although controversial, is often recommended. […] Risk of gonadal cancer is increased; it is often recommended to remove the gonads prophylactically, although this is controversial.
- #32https://www.nhs.uk/conditions/turner-syndrome/treatment/
Women with Turner syndrome have an increased risk of developing brittle bones (osteoporosis) in late adulthood. […] A specialist in hormone-related conditions (endocrinologist) will carry out tests and checks on a regular basis. They’ll also be able to recommend appropriate treatment, such as growth hormone therapy. […] Oestrogen and progesterone replacement therapy may also be recommended. Oestrogen and progesterone are the female hormones responsible for sexual development. Oestrogen also helps prevent brittle bones (osteoporosis). […] Most women with Turner syndrome are unable to have children (infertile). A minority will be able to conceive naturally, so girls and women with Turner syndrome should have access to sexual health and contraception advice. […] Psychological therapy, such as counselling or cognitive behavioural therapy (CBT), may be recommended.
- #33https://www.nhs.uk/conditions/turner-syndrome/treatment/
Women with Turner syndrome have an increased risk of developing brittle bones (osteoporosis) in late adulthood. […] A specialist in hormone-related conditions (endocrinologist) will carry out tests and checks on a regular basis. They’ll also be able to recommend appropriate treatment, such as growth hormone therapy. […] Oestrogen and progesterone replacement therapy may also be recommended. Oestrogen and progesterone are the female hormones responsible for sexual development. Oestrogen also helps prevent brittle bones (osteoporosis). […] Most women with Turner syndrome are unable to have children (infertile). A minority will be able to conceive naturally, so girls and women with Turner syndrome should have access to sexual health and contraception advice. […] Psychological therapy, such as counselling or cognitive behavioural therapy (CBT), may be recommended.
- #34https://www.nhs.uk/conditions/turner-syndrome/treatment/
Women with Turner syndrome have an increased risk of developing brittle bones (osteoporosis) in late adulthood. […] A specialist in hormone-related conditions (endocrinologist) will carry out tests and checks on a regular basis. They’ll also be able to recommend appropriate treatment, such as growth hormone therapy. […] Oestrogen and progesterone replacement therapy may also be recommended. Oestrogen and progesterone are the female hormones responsible for sexual development. Oestrogen also helps prevent brittle bones (osteoporosis). […] Most women with Turner syndrome are unable to have children (infertile). A minority will be able to conceive naturally, so girls and women with Turner syndrome should have access to sexual health and contraception advice. […] Psychological therapy, such as counselling or cognitive behavioural therapy (CBT), may be recommended.
- #35 Turner syndrome: Symptoms, causes, and treatmenthttps://www.medicalnewstoday.com/articles/176083
Early preventive care is important to reduce the risk of complications. Blood pressure and the thyroid gland need frequent monitoring, and any necessary treatment must be given immediately. […] Treatment for inner ear infections with an ear nose and throat (ENT) specialist can minimize the risk of hearing difficulties later in life. […] Growth hormone therapy should start if the girl does not grow normally, to prevent short stature and social stigmatization later in life. […] Estrogen and progesterone replacement therapy will enable sexual development and reduce the risk of osteoporosis. […] In-vitro fertilization (IVF) will be necessary if the individual wishes to become pregnant. Any pregnancy will need close monitoring, because of the extra strain on the heart and blood vessels. […] Early intervention increases the chance of solving these problems before they occur.
- #36 Other Turner Syndrome FAQs | NICHD – Eunice Kennedy Shriver National Institute of Child Health and Human Developmenthttp://www.nichd.nih.gov/health/topics/turner/more_information/other-faqs
Turner syndrome cannot be prevented. It is a genetic problem that is caused by a random error that leads to a missing X chromosome in the sperm or egg of a parent. There is nothing the father or mother can do to prevent the error from occurring. However, there are many options for treatment. […] Most women with Turner syndrome cannot get pregnant naturally. Those who can are at risk for blood pressure-related complications, which can lead to premature birth or fetal growth restriction. Pregnancy also is associated with increased risk for maternal complications, including aortic dissection and rupture.
- #37 Turner Syndrome: Diagnosis and Management | AAFPhttps://www.aafp.org/pubs/afp/issues/2007/0801/p405.html
Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. […] Patients are treated for short stature in early childhood with growth hormone therapy, and supplemental estrogen is initiated by adolescence for pubertal development and prevention of osteoporosis. […] Ongoing estrogen therapy should be initiated in the preteen years. […] Calcium and vitamin D supplementation should be initiated at 10 years of age. […] Given the complexity and multisystem nature of Turner syndrome, family physicians can play an important role in coordinating multidisciplinary management and in directly managing risk factors and complications (e.g., infertility, cardiovascular complications, osteoporosis). […] The key aspects of managing Turner syndrome in children are cardiovascular monitoring and treatment of congenital heart disease; growth hormone therapy to augment linear growth (as early as 12 to 24 months of age); and supplemental estrogen therapy for sexual development and preservation of bone mineral density (typically initiated in the preteen years).
- #38 Turner Syndrome: Diagnosis and Management | AAFPhttps://www.aafp.org/pubs/afp/issues/2007/0801/p405.html
Turner syndrome occurs in one out of every 2,500 to 3,000 live female births. […] Patients are treated for short stature in early childhood with growth hormone therapy, and supplemental estrogen is initiated by adolescence for pubertal development and prevention of osteoporosis. […] Ongoing estrogen therapy should be initiated in the preteen years. […] Calcium and vitamin D supplementation should be initiated at 10 years of age. […] Given the complexity and multisystem nature of Turner syndrome, family physicians can play an important role in coordinating multidisciplinary management and in directly managing risk factors and complications (e.g., infertility, cardiovascular complications, osteoporosis). […] The key aspects of managing Turner syndrome in children are cardiovascular monitoring and treatment of congenital heart disease; growth hormone therapy to augment linear growth (as early as 12 to 24 months of age); and supplemental estrogen therapy for sexual development and preservation of bone mineral density (typically initiated in the preteen years).
- #39 About Turner Syndromehttps://www.genome.gov/Genetic-Disorders/Turner-Syndrome
Regular health checks are very important. Special clinics for the care of girls and women who have Turner syndrome are available in some areas, with access to a variety of specialists. Early preventive care and treatment is very important. […] Osteoporosis can develop because of a lack of estrogen, but this can largely be prevented by taking hormone replacement therapy.
- #40https://www.cgh.com.sg/patient-care/conditions-treatments/turner-syndrome
Turner syndrome (TS) is a chromosomal condition that describes girls and women with common features, physical traits and medical conditions that are caused by the complete or partial absence of one X chromosome. […] TS occurs when all or part of one of the X chromosomes is absent or altered before or soon after the time of conception. It is not connected to or passed on from either parent, and there is nothing a person can do to increase or decrease the likelihood of their child having TS. […] While it is not possible to cure TS, much can be done to make sure your child has the best possible outcome. […] Treatment for those with TS should be individualised. Doctors, families and patients should decide on treatment options together. […] Oestrogen therapy is also important for the prevention of osteoporosis.
- #41 Turner’s syndrome | Better Health Channelhttps://www.betterhealth.vic.gov.au/health/conditionsandtreatments/turners-syndrome
With appropriate medical treatment and support, a girl or woman with Turners syndrome can lead a normal, healthy and productive life. […] Treatment aims to correct any physical defects and help bring about puberty. […] Treatment aims to correct any physical defects and help bring about puberty. Options include: surgery to correct any heart defects, growth hormone therapy to increase height, hormone replacement therapy to trigger menstruation and the development of secondary sexual characteristics such as breasts, regular monitoring to check hormone levels, regular follow-up and management of medical conditions, treatment for the management of complications such as high blood pressure, assisted reproduction.
- #42 Turner Syndrome (Monosomy X): Causes, Symptoms, and Morehttps://www.healthline.com/health/turner-syndrome
There is no way to prevent Turner syndrome, and the cause of the genetic abnormality is unknown. […] While there is no cure, there are treatments that can help manage symptoms and improve your quality of life. […] Treatments that help manage symptoms include growth therapy, sex hormone therapy, and emotional support.