Management and Treatment for Turner Syndrome
The management of Turner syndrome requires comprehensive cardiovascular surveillance with cardiac MRI at diagnosis and regular follow-up imaging, growth hormone therapy for short stature, and hormone replacement therapy for ovarian failure, with special attention to aortic dimensions to prevent life-threatening complications. 1, 2, 3
Cardiovascular Management
- All patients with Turner syndrome should undergo baseline cardiovascular imaging with both transthoracic echocardiography (TTE) and cardiac MRI to evaluate for bicuspid aortic valve, aortic coarctation, and ascending aortic dilation 1, 3
- For patients ≥15 years old, aortic size index (ASI) should be calculated (ASI = maximum aortic diameter/body surface area) as it better predicts vascular complications than traditional z-score analysis 4, 1
- For children <15 years old, Turner-specific z-scores should be used to assess aortic dilation 3
- Risk-stratified cardiovascular surveillance protocol: 1, 2
- Low-risk patients (no cardiovascular abnormalities): Imaging every 5-10 years
- Moderate-risk patients: Imaging every 2-5 years
- High-risk patients (ASI >2.3 cm/m²): Annual imaging
- Surgical intervention should be considered when ASI ≥2.5 cm/m² plus risk factors for aortic dissection (bicuspid aortic valve, coarctation, hypertension) 1, 3
- Hypertension should be treated aggressively according to general guidelines 2
Growth Management
- Growth hormone (somatropin) therapy is indicated for short stature associated with Turner syndrome 5
- FDA-approved dosing for Turner syndrome: Up to 0.375 mg/kg/week given in daily subcutaneous injections 5
- Growth hormone therapy results in adult height gains of 5.0-8.3 cm compared to untreated controls 5
- Greatest improvement in adult height is observed in patients who receive early growth hormone treatment and delayed estrogen replacement (after age 14) 5
- Treatment should be discontinued when epiphyses are fused 5
Gonadal Function and Hormone Replacement
- Estrogen replacement therapy should be initiated around age 12-14 years to induce puberty in patients with ovarian failure 5
- Delaying estrogen therapy until age 15 may result in greater adult height gains (8.3 cm vs 5.9 cm with earlier estrogen) 5
- A standardized estrogen regimen typically starts with low doses that gradually increase to adult replacement levels 5
- Continued hormone replacement therapy is needed through adulthood until the age of natural menopause 6
Additional Health Surveillance
- Screening for other common comorbidities: 7, 6
- Thyroid dysfunction (annual thyroid function tests)
- Type 1 and Type 2 diabetes (periodic glucose tolerance testing)
- Celiac disease
- Hearing loss
- Renal anomalies
- Osteoporosis (bone density screening in adults)
- Neurocognitive assessment and appropriate educational support as needed 8
Pregnancy Considerations
- Thorough cardiovascular evaluation is mandatory before attempting pregnancy 2
- Pregnancy carries a higher risk of aortic dissection, especially with pre-existing cardiovascular abnormalities 1, 2
- Women with ASI >2.0 cm/m² should be counseled about the high risk of pregnancy-related aortic complications 2
Common Pitfalls to Avoid
- Underestimating cardiovascular risk due to small body size - always use indexed measurements (ASI) rather than absolute aortic dimensions 3
- Delaying growth hormone therapy, which reduces potential height gains 5
- Initiating estrogen therapy too early, which may compromise final height 5
- Inadequate frequency of cardiovascular surveillance in high-risk patients 1, 2
- Failing to recognize that Turner syndrome requires lifelong medical follow-up, not just during childhood 8