Clin Exp Pediatr.
2024 Nov;67(11):560-568. 10.3345/cep.2024.00430.
Lifelong medical challenges and immunogenetics of Turner syndrome
- Affiliations
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- 1Department of Pediatrics, St. Vincent’s Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea
- KMID: 2560603
- DOI: http://doi.org/10.3345/cep.2024.00430
Abstract
- Turner syndrome (TS) is a female phenotypic condition characterized by one or more typical clinical features and the partial or complete absence of a second X chromosome as determined by karyotype analysis. TS, among the most common chromosomal abnormalities, has an estimated prevalence of approximately 1 in 2,500 live-born females, with ethnic and racial differences. TS encompasses a wide array of medical challenges, including cardiovascular, endocrine, autoimmune, and mental health issues, as well as a heightened cancer risk. The somatic stigmata of TS are thought to arise from haploinsufficiency of the X chromosomes. This review explores the lifelong medical challenges and immunogenetics of individuals with TS and aimed to investigate strategies for preventing and managing TS while considering the implications of immunogenetics.
