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 im-munogenetics.
Original language | English |
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Pages (from-to) | 560-568 |
Number of pages | 9 |
Journal | Clinical and Experimental Pediatrics |
Volume | 67 |
Issue number | 11 |
DOIs | |
State | Published - Nov 2024 |
Bibliographical note
Publisher Copyright:© 2024 by The Korean Pediatric Society.
Keywords
- Immunogenetics
- Turner syndrome
- X chromosome