What is the management approach for Turner's syndrome?

From the Guidelines

Management of Turner's syndrome requires a multidisciplinary approach, with estrogen replacement therapy starting around age 11-12, and regular screening for cardiovascular, thyroid, and other complications, as recommended by the most recent guidelines 1. The management approach should prioritize the individual's quality of life, morbidity, and mortality, and should be tailored to their specific needs and risk factors.

• Estrogen replacement therapy should be initiated around age 11-12, with a low-dose estradiol (0.25 mg daily) and gradually increased over 2-3 years, with progesterone added after breakthrough bleeding occurs or after 2 years of estrogen therapy, as suggested by the eshre guideline 1.
• Regular screening is essential, including:
  • Annual thyroid function tests
  • Hearing evaluations every 1-3 years
  • Cardiovascular imaging (echocardiogram and cardiac MRI) at diagnosis and periodically thereafter
  • Bone density scans starting in adolescence
  • Blood pressure monitoring
• Patients need regular assessment for autoimmune conditions, glucose intolerance, and renal abnormalities, as well as psychosocial support and educational interventions to address learning difficulties, particularly in mathematics and spatial reasoning.
• The risk of aortic dissection in Turner syndrome correlates with the aortic size index (ASI), and an ASI ≥2.5 cm/m2 is associated with a significantly increased risk of aortic dissection, as reported in the 2022 acc/aha guideline 1.
• The 2024 esc guidelines for the management of peripheral arterial and aortic diseases recommend adjusting aortic dilatation diagnosis for anthropometric parameters and using Turner-specific z-scores for dissection risk estimation 1.
• Growth hormone therapy is also an important aspect of management, typically started when the girl falls below the 5th percentile on growth charts, administered at 0.375 mg/kg/week divided into daily subcutaneous injections until final height is achieved. This comprehensive approach aims to optimize growth, ensure proper sexual development, prevent complications, and improve quality of life for individuals with Turner's syndrome.

From the Research

Management Approach for Turner's Syndrome

The management of Turner's syndrome involves a multidisciplinary approach, including growth hormone therapy and hormone replacement therapy. The goals of treatment are to induce puberty, maintain secondary sex characteristics, attain peak bone mass, and promote uterine growth.

• Hormone Replacement Therapy: Estrogen replacement is crucial for girls with Turner's syndrome, as most have hypergonadotropic hypogonadism 2, 3. The optimal estrogen replacement regimen is still being studied, but treatment should begin at age 11 to 12 years, with dose increases over 2 to 3 years 2, 3.
• Growth Hormone Therapy: Growth hormone treatment can increase adult height in patients with Turner's syndrome 4. Combining childhood ultra-low-dose estrogen with growth hormone may improve growth and provide other potential benefits associated with early initiation of estrogen replacement 4.
• Multidisciplinary Approach: Turner's syndrome requires a multidisciplinary approach, involving experienced professionals from various specialty fields, including endocrinology, cardiology, and reproductive health 5, 6.
• Monitoring and Follow-up: Regular monitoring and follow-up are essential to manage the various health issues associated with Turner's syndrome, including cardiovascular disorders, osteoporosis, and autoimmune disorders 5, 6.

Key Considerations

• Timing of Treatment: Delaying estrogen replacement may be deleterious to bone and uterine health 2, 3.
• Type of Estrogen: Low-dose transdermal estradiol is recommended as the initial treatment, with oral micronized estradiol or intramuscular preparations as alternatives 2.
• Progestin Therapy: Progestin should be added to estrogen replacement therapy to regulate menstrual cycles and prevent endometrial hyperplasia 2.