Cho Won Kyoung
Department of Pediatrics, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.
Clin Exp Pediatr. 2024 Nov;67(11):560-568. doi: 10.3345/cep.2024.00430. Epub 2024 Jul 31.
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.
特纳综合征(TS)是一种女性表型疾病,其特征为具有一种或多种典型临床特征,并且通过核型分析确定部分或完全缺失第二条X染色体。TS是最常见的染色体异常疾病之一,估计在每2500名活产女性中约有1例发病,存在种族差异。TS包含一系列医学难题,包括心血管、内分泌、自身免疫和心理健康问题,以及患癌风险增加。TS的躯体特征被认为是由X染色体单倍剂量不足引起的。本综述探讨了TS患者终身面临的医学难题和免疫遗传学问题,旨在研究预防和管理TS的策略,同时考虑免疫遗传学的影响。