What is the management of Turner syndrome?

Management of Turner Syndrome

Turner syndrome management requires a comprehensive approach focusing on cardiovascular surveillance, growth hormone therapy, estrogen replacement, and screening for associated conditions to reduce morbidity and mortality.

Cardiovascular Management

Cardiovascular complications are a major concern in Turner syndrome due to increased risk of aortic dissection:

• Initial Evaluation:

  • TTE and cardiac MRI at diagnosis to evaluate for BAV, aortic dilation, coarctation, and other congenital heart defects 1, 2
  • For patients ≥15 years: Calculate Aortic Size Index (ASI = aortic diameter [cm]/BSA [m²]) 1, 2
  • For children <15 years: Use Turner syndrome-specific z-scores 1, 2

• Surveillance Protocol:

  • Without risk factors: Every 5 years for children, every 10 years for adults 1, 2
  • With ASI >2.3 cm/m²: At least annual imaging 1
  • With risk factors (BAV, coarctation, hypertension): Frequency based on aortic diameter, ASI, and growth rate 1, 2
  • Pre-pregnancy assessment mandatory 1, 2

• Surgical Intervention:

  • Recommended for patients ≥15 years with ASI ≥2.5 cm/m² plus risk factors 1, 2
  • May be considered for those without risk factors but with significant dilation 1
  • Absolute aortic diameter >4.0 cm may be more accurate than ASI in short-statured but obese patients 1

Growth Management

• Growth hormone therapy is standard treatment for short stature 3, 4, 5
• Start early when growth velocity decreases or height falls below the 5th percentile 5
• Monitor for potential side effects including glucose intolerance 6

Hormonal Management

• Estrogen replacement therapy typically initiated around age 11-12 years 4, 5
• Start with low doses and gradually increase to adult replacement levels 5
• Continued through normal menopausal age to prevent osteoporosis and cardiovascular disease 4, 5

Additional Screening and Management

• Endocrine:

  • Thyroid function tests annually (increased risk of autoimmune thyroiditis) 2, 5
  • Glucose tolerance testing (increased risk of diabetes) 2, 6
  • Bone mineral density assessment 5, 6

• Other Systems:

  • Hearing evaluation (increased risk of hearing loss) 5, 6
  • Renal ultrasound (structural abnormalities in 30-40%) 5
  • Liver function tests (elevated enzymes common) 6
  • Neurocognitive assessment (specific learning disabilities common) 2, 5

Transition and Adult Care

• Structured transition from pediatric to adult care is critical 2, 4, 5
• Adult follow-up should continue lifelong due to ongoing risks 2, 6
• Multidisciplinary approach involving endocrinology, cardiology, gynecology, and other specialties as needed 6

Emergency Considerations

• Any sudden, severe chest or abdominal pain should prompt immediate evaluation for aortic dissection 2
• Strict blood pressure control and surgical consultation essential if dissection suspected 2

Pregnancy Considerations

• Pre-pregnancy cardiovascular assessment mandatory 1, 2
• High-risk pregnancy requiring specialized care 2
• Oocyte donation may be an option for women with ovarian failure 5

Turner syndrome requires lifelong surveillance with particular attention to cardiovascular health, as aortic dissection represents a significant mortality risk that can be mitigated through appropriate monitoring and timely intervention.