From the Guidelines
Management of Turner syndrome requires a multidisciplinary approach, with estrogen replacement therapy starting around age 11-12, and regular screening for cardiovascular and autoimmune disorders, as well as psychosocial support and fertility counseling. The management approach should prioritize the patient's quality of life, morbidity, and mortality. According to the most recent guidelines 1, the use of the aortic size index (ASI) is recommended to define the degree of aortic dilation and assess the risk of aortic dissection in patients with Turner syndrome. Estrogen replacement therapy should begin with low-dose estradiol, such as 0.25 mg daily, and gradually increase 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. Some key points to consider in the management of Turner syndrome include:
- Growth hormone therapy, typically started when the girl falls below the 5th percentile on growth charts, administered at 0.375 mg/kg/week via daily subcutaneous injections until final height is achieved
- Regular screening, including annual thyroid function tests, hearing evaluations every 3-5 years, cardiovascular imaging (echocardiogram and cardiac MRI) at diagnosis and periodically thereafter, bone density scans starting in adolescence, and blood pressure monitoring
- Ongoing monitoring for autoimmune disorders, particularly hypothyroidism and celiac disease
- Psychosocial support and educational interventions to address learning difficulties, particularly in spatial-visual organization and mathematics
- Fertility counseling, as most patients will be infertile, though assisted reproductive technologies using donor eggs may be an option for those with normal uterine development. The 2024 esc guidelines for the management of peripheral arterial and aortic diseases 1 also emphasize the importance of cardiovascular screening and management in patients with Turner syndrome. Overall, a comprehensive and multidisciplinary approach is necessary to manage the various manifestations of Turner syndrome and improve the patient's quality of life and outcomes.
From the Research
Management Approach for Turner Syndrome
The management of Turner syndrome involves a multidisciplinary approach to address the various clinical findings associated with the condition, including short stature, primary ovarian failure, and neurocognitive difficulties 2. The goals of management are to optimize health care delivery and enable individuals with Turner syndrome to achieve their full potential.
Hormonal Replacement Therapy
Hormonal replacement therapy is a crucial aspect of Turner syndrome management, as most girls with the condition have hypergonadotropic hypogonadism and require sex steroid hormonal replacement therapy 3, 4. The optimal estrogen replacement regimen is still being studied, but the goals of replacement are to mimic normal timing and progression of physical and social development while minimizing risks.
- Estrogen replacement should begin at age 11 to 12 years, with dose increases over 2 to 3 years 3, 4.
- Initiation with low-dose estradiol is crucial to preserve growth potential 3, 5.
- Delaying estrogen replacement may be deleterious to bone and uterine health 3, 4.
Growth Hormone Therapy
Growth hormone therapy is also an important aspect of Turner syndrome management, as it can help increase final height 5. The use of very low doses of systemic estradiol to induce puberty before the age of 15 years in girls with Turner syndrome who are treated with growth hormone can result in increased final heights 5.
Multidisciplinary Approach
A multidisciplinary approach to care is essential for individuals with Turner syndrome, as the condition affects multiple organs and systems throughout life 2, 6. This approach should include:
- Genetic diagnosis and counseling
- Treatment of short stature and growth hormone therapy
- Estrogen supplementation and hormonal replacement therapy
- Addressing psychosocial issues and providing support
- Screening for other comorbidities, such as cardiovascular and endocrine disorders.