What is the management of Turner syndrome?

Management of Turner Syndrome

Turner syndrome management requires a comprehensive multidisciplinary approach focusing on cardiovascular monitoring, growth hormone therapy, hormone replacement, and surveillance for associated conditions to reduce mortality and improve quality of life.

Cardiovascular Management

Cardiovascular complications are a major cause of mortality in Turner syndrome:

• Initial Cardiovascular Assessment:

  • Transthoracic echocardiography (TTE) and cardiac MRI at diagnosis 1
  • Calculate Aortic Size Index (ASI) in patients ≥15 years old 1
  • Screen for bicuspid aortic valve (10-25% prevalence) and aortic coarctation (8% prevalence) 2, 1

• Risk Stratification and Monitoring:

  • High risk: ASI ≥2.5 cm/m², history of aortic coarctation, or uncontrolled hypertension → annual evaluation 1
  • Moderate risk: ASI 2.0-2.3 cm/m² → evaluation every 3-5 years 1
  • Low risk: ASI <2.0 cm/m² → evaluation every 5-10 years 1
  • Patients with no risk factors (no bicuspid valve, coarctation, or dilated aorta) → re-evaluation every 5-10 years 2

• Interventions:

  • Beta-blockers to reduce rate of aortic dilatation 1
  • Surgical intervention for aortic root/ascending aorta replacement when ASI ≥2.5 cm/m² plus risk factors 1
  • Strict blood pressure control and monitoring 2, 1

Growth Management

• Growth Hormone Therapy:
  • Initiate as soon as growth curve falls below 5th percentile 3
  • Adjust doses according to clinical response 3
  • Some studies support combined therapy with growth hormone and oxandrolone (an anabolic steroid) 3
  • Growth hormone treatment has not shown evidence of left ventricular hypertrophy 2

Reproductive and Hormonal Management

• Estrogen Replacement Therapy:

  • Begin by adolescence for pubertal development 4
  • Timing should balance potential growth impact with need for feminization and bone mineral density protection 3
  • Continue into adulthood to prevent osteoporosis 4

• Fertility Considerations:

  • Most women with Turner syndrome are infertile 4
  • Assisted reproduction may be an option for some patients 4
  • Pre-pregnancy cardiovascular assessment is essential 1
  • Pregnancy is high-risk and requires close monitoring 1

Surveillance for Associated Conditions

• Endocrine Disorders:

  • Regular screening for hypothyroidism 5
  • Monitoring for type 1 and type 2 diabetes mellitus 6
  • Bone density assessment for osteoporosis 6, 5

• Other Systems:

  • Renal imaging to detect malformations 4
  • Hearing assessment for sensorineural hearing loss 4
  • Screening for autoimmune disorders 6, 7

Transition of Care

• Coordinated transition from pediatric to adult care is crucial to prevent loss of lifelong surveillance 1
• Adult patients should be followed by a multidisciplinary team including endocrinology, cardiology, gynecology, and other specialists as needed 5

Important Considerations and Pitfalls

• Diagnostic Delay: Despite characteristic features, average age at diagnosis is around 15 years 6, 7
• Cardiovascular Risk: Aortic dissection risk is significantly elevated (36:100,000 Turner syndrome years vs. 6:100,000 in general population) 2, 1
• Pregnancy Risks: Women with Turner syndrome face substantial risks during pregnancy and require specialized pre-conception counseling and monitoring 1
• Psychosocial Support: Patients may have normal intelligence but experience challenges with nonverbal, social, and psychomotor skills requiring appropriate support 4

Turner syndrome management requires vigilant lifelong monitoring with particular attention to cardiovascular risk, which represents the most significant threat to mortality in these patients.