NR5A1基因新突变致46,XY完全性性腺发育不良患者的临床诊治与遗传学分析  

Clinical diagnosis and genetic analysis of 46,XY complete gonadal dysplasia caused by a new mutation of NR5A1 gene

作　　者：摆俊博 娜菲莎·吐尔地 刘开放 迪亚尔·地里木拉提 李佳[1] BAI Junbo;NAFEISHA Tuerdi;LIU Kaifang;DIYAER Dilimulati;LI Jia(Department of Pediatric Urology,The First Affiliated Hospital of Xinjiang Medical University,Urumqi 830011;College of Pediatrics,Xinjiang Medical University,Urumqi 830011,China)

机构地区：[1]新疆医科大学第一附属医院小儿泌尿外科,乌鲁木齐830011 [2]新疆医科大学儿科学院,乌鲁木齐830011

出　　处：《现代泌尿外科杂志》2023年第9期791-795,共5页Journal of Modern Urology

基　　金：新疆维吾尔自治区自然科学基金项目(No.2022E02047)。

摘　　要：目的探讨由NR5A1基因新突变致46,XY完全性性腺发育不良(46,XY CGD)患者的临床特征及分子遗传学机制。方法回顾性分析1例社会性别为女性、染色体核型为46,XY患者的临床资料,并进行全外显子组及线粒体组基因检测。结果患者阴蒂肥大,存在尿道口及阴道口,且两者间无共同通道;超声提示存在始基子宫、双侧卵巢显示不清;性腺活检提示性腺为发育不良的睾丸组织;染色体核型为46,XY;全外显子组及线粒体组基因检测提示9号染色体上的NR5A1基因出现新的杂合错义突变,变异信息为:c.205C>T:p.Arg69Cys;母亲未携带该基因变异。结论46,XY CGD临床表现多样,NR5A1基因变异是其重要病因之一,为明确该病的临床诊断及发病机制提供依据。Objective To investigate the clinical characteristics and molecular genetic mechanism of 46,XY complete gonadal dysplasia(46,XY CGD)caused by a new mutation of NR5A1 gene.Methods The clinical data of a female patient with 46 XY karyotype were retrospectively analyzed,and the whole exon group and mitochondrial group genes were detected.Results The clitoris was hypertrophic.The patient had both urethral orifice and vaginal orifice,and there was no common passage between them.Ultrasonography showed an unclear primordial uterus and bilateral ovaries.The gonad biopsy showed poorly developed testicular tissue.Karyotype was 46,XY.The detection of whole exon group and mitochondrial group genes indicated a new heterozygous missense mutation in NR5A1 gene on chromosome 9,and the variation information was c.205C>T:p.Arg69Cys.The mother did not carry the gene mutation.Conclusion The clinical manifestations of 46,XY CGD are diverse.NR5A1 gene mutation is one of the important causes,which provides a basis for the clinical diagnosis and pathogenesis of the disease.

关 键 词：46 XY完全性性腺发育不全 NR5A1基因 新变异 基因突变 

分 类 号：R699.7[医药卫生—泌尿科学]