多种检测方法对46,XY女性性反转综合征患者的分析  

Analysis of multiple detection methods in 46,XY female patients with sex reversal syndrome

作　　者：谷小乐 陈虹[1] 赵飞[1] 刘敏[1] 解洪强 李世骏[1] 高选[1] GU Xiaole;CHEN Hong;ZHAO Fei(Center for Reproductive Medicine,Cheeloo College of Medicine,Shandong University,Shandong Jinan 250012)

机构地区：[1]山东大学生殖医学研究中心,山东济南250012

出　　处：《医学检验与临床》2022年第12期5-8,共4页Medical Laboratory Science and Clinics

基　　金：山东省医药卫生科技发展计划,项目编号:2019WS168。

摘　　要：目的:总结3例46,XY的女性性反转综合征患者的临床资料、性激素水平和分子遗传学结果,以提高对该病的认识,建立正确诊断思路。方法:回顾并分析2016年1月-2020年4月在本院就诊的3例46,XY的女性性反转综合征患者的临床资料、性激素水平和分子遗传学结果。结果:3例46,XY的女性性反转综合征患者社会性别均为女性,均原发性闭经,均身材高大,AZF基因检测位点(AZFa:sY84、sY86;AZFb:sY127、sY134、RBM1;AZFc:sY254、sY255;AZFd:sY152、sY153)均存在,SRY均阳性。结论:运用染色体G显带、FISH、AZF基因检测技术可以对该病症确诊。总结3例病例,完善分子遗传学检测,建立正确的诊断方向,以免误诊,延误治疗。Objective:To summarize the clinical data,sex hormone levels and molecular genetic results of 3 cases of 46>XY female sex reversal syndrome,so as to improve the understanding of the disease and establish a correct diagnosis idea.Methods:The clinical data,sex hormone levels and molecular genetic results of three patients with 46,XY female sex reversal syndrome in Reproductive Hospital Affiliated to Shandong University from January 2016 to April 2020 were retrospectively analyzed.Results:All the 3 patients with 46,XY female sex reversal syndrome were female,with primary amenorrhea and tall stature;AZF gene detection site(AZFa:sY84、sY86;AZFb:sY127>sY134、RBM1;AZFc:sY254、sY255;AZFd:sY152、sY153)were all present and SRY were positive.Conclusion:The diagnosis can be made by Chromosome G—banding technology,FISH technique and AZF gene detection.Summarize the experience of three cases to improve the molecular genetic testing and establish the correct diagnostic ideas,so as to avoid misdiagnosis and delay treatment.

关 键 词：46 XY 性反转综合征 临床 内分泌 遗传学 

分 类 号：R711.51[医药卫生—妇产科学]