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Turner syndrome

Definition
TS is a genetic disorder that affects females, characterized by the partial or complete absence of one X chromosome.
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Pathophysiology
The absence of one X chromosome leads to a range of physical and developmental abnormalities.
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Epidemiology
The prevalence of TS is estimated at 7.62 per 100,000 population worldwide.
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Disease course
TS is associated with a range of clinical features and complications, including short stature, delayed puberty, ovarian dysgenesis, hypergonadotropic hypogonadism, and infertility. Other associated medical complications include congenital malformations of the heart, endocrine disorders such as T1DM and T2DM, osteoporosis, and autoimmune disorders. It can present with various symptoms and complications at different stages of life, necessitating a multidisciplinary approach to care.
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Prognosis and risk of recurrence
The prognosis is variable and depends on the severity of symptoms and the presence of associated conditions. While TS is a lifelong condition, with appropriate medical management and support, patients can lead normal and fulfilling lives.
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Key sources
The following summarized guidelines for the evaluation and management of turner syndrome are prepared by our editorial team based on guidelines from the European Society of Endocrinology (ESE/ES 2017) and the Society for Cardiovascular Angiography and Interventions (SCAI/STS/SVM/AATS/SCA/AHA/ACR/ACC/ASA/SIR 2010).
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Guidelines

1.Screening and diagnosis

Diagnostic criteria: consider a diagnosis of TS in phenotypic females with a karyotype containing one X chromosome and complete or partial absence of the second sex chromosome, associated with one or more typical clinical manifestations of TS.
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  • Indications for screening

  • Indications for testing

2.Diagnostic investigations

Cardiac and aortic workup: as per ES 2017 guidelines, obtain TTE at the time of diagnosis, even if the fetal echocardiogram or postnatal cardiac examination was normal.
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  • Renal imaging

3.Medical management

GH treatment: initiate GH treatment early, around 4-6 years of age, and preferably before 12-13 years, in patients with evidence of growth failure, in those who are already short, and in those who have a strong likelihood of short stature.
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  • Androgen treatment

  • Estrogen and progesterone treatment

  • Management of hypertension

  • Monitoring of QTc interval

4.Nonpharmacologic interventions

Physical activity restrictions: consider the function of the aortic valve and the presence of any other congenital heart disease and/or hypertension in determining participation recommendations for the athlete with Turners's syndrome and aortic dilation.
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  • Edema management

5.Surgical interventions

Gonadectomy: consider gonadectomy in all female individuals with Y chromosome material identified on standard karyotyping.
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  • Aneurysm repair

6.Specific circumstances

Pregnancy in Turner's syndrome: manage pregnant women with TS with the help of a multidisciplinary team including maternal-fetal medicine specialists and cardiologists with expertise in managing women with TS.
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  • Transition to adult care

7.Patient education

Turner's syndrome and fertility: counsel females with TS that their probability to conceive spontaneously decrease rapidly with age, if at all present, and consider offering fertility treatment at a young age.
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  • Indications to seek urgent care

8.Follow-up and surveillance

Follow-up cardiac imaging: as per AHA 2010 guidelines, perform repeat imaging every 5 to 10 years or if otherwise clinically indicated if initial imaging is normal and there are no risk factors for aortic dissection. If abnormalities exist, perform annual imaging or follow-up imaging.
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