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
{"title":"Lifelong medical challenges and immunogenetics of Turner syndrome.","authors":"Won Kyoung Cho","doi":"10.3345/cep.2024.00430","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":36018,"journal":{"name":"Clinical and Experimental Pediatrics","volume":" ","pages":"560-568"},"PeriodicalIF":3.2000,"publicationDate":"2024-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11551602/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Clinical and Experimental Pediatrics","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.3345/cep.2024.00430","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/7/31 0:00:00","PubModel":"Epub","JCR":"Q1","JCRName":"PEDIATRICS","Score":null,"Total":0}
引用次数: 0

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。
求助全文
约1分钟内获得全文 求助全文
来源期刊
CiteScore
8.00
自引率
2.40%
发文量
88
审稿时长
60 weeks
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
copy
已复制链接
快去分享给好友吧!
我知道了
右上角分享
点击右上角分享
0
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术官方微信