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特纳综合征的终身医学挑战与免疫遗传学

Lifelong medical challenges and immunogenetics of Turner syndrome.

作者信息

Cho Won Kyoung

机构信息

Department of Pediatrics, St. Vincent's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

出版信息

Clin Exp Pediatr. 2024 Nov;67(11):560-568. doi: 10.3345/cep.2024.00430. Epub 2024 Jul 31.

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.

摘要

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。

相似文献

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Lifelong medical challenges and immunogenetics of Turner syndrome.特纳综合征的终身医学挑战与免疫遗传学
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Chromosomal Abnormalities of Interest in Turner Syndrome: An Update.特纳综合征相关的染色体异常:最新进展
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本文引用的文献

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Neurocognitive and psychosocial profiles of children with Turner syndrome.特纳综合征患儿的神经认知和心理社会特征
Ann Pediatr Endocrinol Metab. 2023 Dec;28(4):258-266. doi: 10.6065/apem.2244222.111. Epub 2023 Feb 5.

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