全外显子组测序检测46,XX男性性反转综合征  

46,XX male sex reversal syndrome detected by whole exome sequencing

作　　者：易薇 葛世军 杨必清 叶晓芳 杨银瑞 王晓辉[2] 褚嘉祐[2] 杨昭庆[2] YI Wei;GE Shijun;YANG Biqing;YE Xiaofang;YANG Yinrui;WANG Xiaohui;CHU Jiayou;YANG Zhaoqing(Clinical Laboratory,People’s Hospital of Dehong Prefecture,Mangshi,Yunnan 678400,China;Department of Medical Genetics,Institute of Medical Biology,Chinese Academy of Medical Sciences&Peking Union Medical College,Kunming,Yunnan 650118,China)

机构地区：[1]德宏州人民医院检验科,云南芒市678400 [2]中国医学科学院&北京协和医学院医学生物学研究所医学遗传学研究室,云南昆明650118

出　　处：《中国优生与遗传杂志》2022年第5期799-802,共4页Chinese Journal of Birth Health & Heredity

基　　金：云南省高层次卫生健康人才项目(L-2018003)。

摘　　要：目的探讨46,XX男性性反转综合征患者的临床及细胞和分子遗传学特征。方法分析1例46,XX男性性反转综合征患者的临床表现,并进行精液、血清性激素、外周血染色体核型、Y染色体AZF(azoospermiafactor,无精子症因子)微缺失及WES(wholeexomesequencing,全外显子组测序)检测。结果患者表现出身材矮小,有明显的男性体征,小睾丸,无精子症,性激素检查提示高促性腺激素性性腺功能不全,核型为46,XX,Y染色体AZFa、b、c区均缺失,SRY(sex-determining region of Y,Y染色体性别决定区)基因检测呈阳性,WES测序未发现与该患者性反转相关的其他致病性CNVs(copy number variations,拷贝数变异)及基因突变。结论SRY基因阳性和AZF区域缺失是本例性反转患者男性表型和无精子症的主要原因。染色体核型分析结合全外显子组测序有利于查找性分化异常相关的拷贝数变异及基因突变,为明确46,XX男性性反转综合征的发病机制及临床诊断提供科学依据。Objective To investigate clinical and molecular cytogenetic characteristics of 46,XX male sex reversal syndrome.Methods The clinical manifestations of a 46,XX male patient with sex reversal syndrome were analyzed.The semen,serum sex hormones were tested.Chromosome karyotype analysis,Y chromosome AZF(azoospermia factor)microdeletion analysis and WES(whole exome sequencing)were performed.Results The patient presented with short stature,distinct male phenotype,small testes and azoospermia.Hormone analysis revealed hypergonadotropic hypogonadism.Karyotyping showed a 46,XX karyotype.AZFa,b and c regions of Y chromosome were absent.The SRY(sex-determining region of Y)gene was detected,and no other pathogenic CNVs(copy number variations)and gene mutations related to the sex reversal were detected.Conclusion The presence of SRY and the absence of AZF were the main causes of the male phenotypes and azoospermia in the patient.Karyotype analysis combined with whole exome sequencing(WES)is helpful to detect CNVs and gene mutations related to abnormal sexual differentiation and provide scientific evidence to clarify the pathogenesis and clinical diagnosis of 46,XX male sex reversal syndrome.

关 键 词：46 XX男性性反转 染色体核型分析 Y染色体AZF微缺失 全外显子组测序 

分 类 号：R596.1[医药卫生—内科学]