Turner syndrome: update on current therapies
1a Chief Developmental Endocrinology Branch, National Institutes of Health, Developmental Endocrinology Branch, National Institute of Child Health & Human Development, 10 Center Dr., Rm 1-3330, Bethesda, MD 20982, USA. bondyc@mail.nih.gov.
Expert Review of Endocrinology & Metabolism
|February 13, 2019
Summary
New treatments significantly improve health and quality of life for girls and women with Turner syndrome (monosomy X). Early interventions and monitoring manage common health issues and cardiovascular risks, enhancing patient outcomes.
Area of Science:
- Endocrinology
- Genetics
- Cardiovascular Medicine
Background:
- Turner syndrome (monosomy X) affects females, presenting unique health challenges.
- Historically, management focused on specific symptoms, with evolving treatment paradigms.
Purpose of the Study:
- To review current therapeutic strategies for Turner syndrome.
- To highlight the importance of early detection and management of associated health conditions.
- To explore potential insights into gender differences in cardiovascular disease.
Main Methods:
- Literature review of current treatment protocols.
- Analysis of screening guidelines for common comorbidities.
- Discussion of cardiovascular monitoring and metabolic risk factors.
Main Results:
- Growth hormone and estrogen therapy enhance height and feminization.
- Proactive screening identifies and allows treatment for otitis, thyroid disease, hypertension, dyslipidemia, and diabetes.
- Cardiovascular evaluation and aortic diameter monitoring are crucial for preventing dissection or rupture.
Conclusions:
- Modern treatments substantially improve quality of life and health outcomes for individuals with Turner syndrome.
- Comprehensive management, including hormonal therapy and vigilant monitoring, is key.
- Further research into metabolic factors may clarify gender-specific cardiovascular disease mechanisms.
Keywords:
HRTX chromosomecongenital heart diseaseestrogengenomic imprintinggrowth hormonehormone replacement therapyosteoporosispremature ovarian failureshort statureMore Related Videos
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