特纳综合征的终身医疗挑战和免疫遗传学。

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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引用次数: 0

摘要

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。
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Lifelong medical challenges and immunogenetics of Turner syndrome.

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.

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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
期刊最新文献
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