What is the recommended management for a 32-year-old woman with Turner's syndrome?

Management of Turner Syndrome in a 32-Year-Old Woman

The recommended management for a 32-year-old woman with Turner syndrome requires a multidisciplinary approach focusing on cardiovascular surveillance, hormone replacement therapy, and screening for associated conditions to reduce morbidity and mortality.

Cardiovascular Management

Aortic Surveillance

• All women with Turner syndrome should undergo baseline cardiovascular imaging to evaluate for bicuspid aortic valve, coarctation of the aorta, and enlargement of the ascending aorta 1
• Frequency of imaging should be determined by risk stratification:
  • Low risk (ASI <20 mm/m², AHI <20 mm/m): Cardiology evaluation and TTE every 5-10 years 1
  • Moderate risk (ASI 20-25 mm/m², AHI 20-25 mm/m): Cardiology evaluation and TTE every 2-5 years 1
  • High risk (ASI >25 mm/m², AHI >25 mm/m or Z-score >4): Cardiology evaluation and TTE annually 1
• CMR or CCT should be used if the ascending aorta is not adequately visualized by TTE 1

Surgical Considerations

• Prophylactic replacement of the aortic root or ascending aorta should be considered when:
  • Aortic size index (ASI) >23 mm/m² or
  • Aortic height index (AHI) >23 mm/m or
  • Z-score >3.5 1
• Additional risk factors that warrant consideration for surgery include:
  • Bicuspid aortic valve
  • Coarctation of the aorta
  • Uncontrolled hypertension
  • Rapid aortic growth (≥3 mm per year)
  • Planned pregnancy 1

Medical Management

• Beta-blockers and/or ARBs may be considered to inhibit aortic growth, similar to management in Marfan syndrome 1
• Hypertension should be treated aggressively according to general guidelines 1

Endocrine Management

Hormone Replacement Therapy

• Sex hormone replacement therapy (estrogen and progesterone) should be discussed with an endocrinologist to:
  • Maintain secondary sexual characteristics
  • Prevent osteoporosis
  • Improve quality of life 1, 2
• Hormone therapy typically continues until the average age of menopause (approximately 50 years) 2

Metabolic Monitoring

• Regular screening for:
  • Type 1 and Type 2 diabetes mellitus
  • Thyroid dysfunction (particularly hypothyroidism)
  • Osteoporosis 3, 4
• DEXA scans should be performed to monitor bone density 4

Reproductive Considerations

Fertility Management

• Most women with Turner syndrome are infertile due to ovarian dysgenesis 5
• For those considering pregnancy:
  • Thorough cardiovascular evaluation is mandatory before attempting pregnancy
  • Oocyte donation may be an option but carries increased risks
  • Pregnancy is associated with higher risk of aortic dissection, especially with pre-existing cardiovascular abnormalities 1, 2

Additional Health Surveillance

Renal Imaging

• Screening for renal malformations which are present in approximately 30-40% of patients 5

Hearing Assessment

• Regular audiometric evaluation for sensorineural hearing loss 5

Psychological Support

• Assessment for psychosocial issues, as patients may have difficulties with nonverbal, social, and psychomotor skills despite normal intelligence 5

Common Pitfalls and Caveats

• Diagnostic delay: The average age at diagnosis is around 15 years, so ensure all aspects of the syndrome are addressed even in newly diagnosed adults 3
• Cardiovascular risk underestimation: The risk of aortic dissection is significantly higher than in the general population (36:100,000 person-years vs. 6:100,000) 1
• Pregnancy risks: Pregnancy in Turner syndrome carries substantial risks and requires extensive pre-conception counseling and monitoring 1
• Measurement challenges: When assessing aortic dimensions, it's essential to use Turner-specific normative data or index measurements to body surface area or height due to the typically smaller stature 1
• Exercise recommendations: Physical activity should be encouraged but modified based on cardiovascular status and aortic dimensions 1