Turner syndrome: mechanisms and management
Claus H Gravholt1,2, Mette H Viuff3,4, Sara Brun3
1Department of Endocrinology and Internal Medicine, Aarhus University Hospital, Aarhus, Denmark. ch.gravholt@dadlnet.dk.
Nature Reviews. Endocrinology
|June 20, 2019
Summary
Turner syndrome, a condition involving X chromosome loss, affects women
Area of Science:
- Genetics and Genomics
- Endocrinology
- Cardiology
- Reproductive Health
Background:
- Turner syndrome is a genetic condition characterized by the partial or complete absence of one X chromosome in females.
- It is linked to various health issues, including short stature, delayed puberty, ovarian insufficiency, heart defects, and endocrine and autoimmune disorders.
- Increased morbidity and mortality necessitate lifelong, multidisciplinary care for affected individuals.
Purpose of the Study:
- To provide an updated review of Turner syndrome, encompassing recent advancements.
- To cover progress in understanding genetic and genomic mechanisms.
- To discuss associated disorders and current multidisciplinary management strategies.
Main Methods:
- Review of recent scientific literature and clinical advances related to Turner syndrome.
- Synthesis of information on genetic mechanisms, associated conditions, and therapeutic interventions.
- Focus on multidisciplinary care approaches, including hormone therapies.
Main Results:
- Significant clinical advances have been made across various specialty fields involved in Turner syndrome care.
- Progress includes a better understanding of genetic and genomic underpinnings of the syndrome.
- Current management strategies incorporate growth hormone and hormone replacement therapies.
Conclusions:
- Turner syndrome requires comprehensive, lifelong management due to its multi-systemic impact.
- Continued research and clinical updates are crucial for improving patient outcomes.
- Multidisciplinary care, informed by recent advances, is essential for optimizing the health and well-being of women with Turner syndrome.
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