Lifelong medical challenges and immunogenetics of Turner syndrome.

IF 3.2 Q1 PEDIATRICS
Clinical and Experimental Pediatrics Pub Date : 2024-11-01 Epub Date: 2024-07-31 DOI:10.3345/cep.2024.00430
Won Kyoung Cho
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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.

特纳综合征的终身医疗挑战和免疫遗传学。
特纳综合征(Turner Syndrome,TS)是一种女性表型疾病,其特征是具有一种或多种典型的临床特征,并且通过核型分析确定部分或完全没有第二条X染色体。TS 是最常见的染色体异常之一,估计发病率约为每 2500 名活产女性中就有一名 TS 患者,但存在种族和人种差异。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,以及更高的癌症风险。TS 的躯体特征被认为是由 X 染色体的单倍体缺陷引起的。本综述探讨了 TS 患者的终身医疗挑战和免疫遗传学,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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
8.00
自引率
2.40%
发文量
88
审稿时长
60 weeks
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