先天性双侧输精管缺如伴生精功能障碍一例  

A Case of Congenital Bilateral Absence of Vas Deferens with Spermatogenesis Failure

作　　者：付旭 周莹[2] 顾怡栋 王家雄[1] 杨慎敏[1] FU Xu;ZHOU Ying;GU Yi-dong;WANG Jia-xiong;YANG Shen-min(Center for Reproduction and Genetics,The Affiliated Suzhou Hospital of Nanjing Medical University,Suzhou Municipal Hospital,Suzhou 215002,China;Reproductive Medicine Center of The First Affiliated Hospital of Soochow University,Suzhou 215000,China)

机构地区：[1]南京医科大学附属苏州医院/苏州市立医院生殖与遗传中心,215002 [2]苏州大学附属第一医院生殖医学中心

出　　处：《国际生殖健康／计划生育杂志》2022年第3期204-206,共3页Journal of International Reproductive Health/Family Planning

基　　金：姑苏卫生人才培养项目(GSWS2019053)。

摘　　要：先天性双侧输精管缺如(congenital bilateral absence of vas deferens,CBAVD)是梗阻性无精子症的常见原因之一,睾丸生精功能一般正常,除了常见的囊性纤维化穿膜传导调节蛋白(cystic fibrosis transmembrane conductance regulator,CFTR)基因突变外,黏附G蛋白耦联受体G2(adhesion G protein-coupled receptor G2,ADGRG2)基因突变以及拷贝数变异也被认为是CBAVD的发病机制。本文报告1例CBAVD伴生精功能障碍的病例,睾丸组织病理学提示唯支持细胞综合征。全外显子组测序未发现该患者CFTR、ADGRG2以及无精子症相关基因存在致病变异,拷贝数变异分析也未发现有意义的拷贝数变异。该病例的确切遗传学病因尚未可知。CBAVD与生精功能障碍并存的临床现象,提示无精子症遗传病因的复杂性。The congenital bilateral absence of vas deferens(CBAVD)is a common cause of obstructive azoospermia,in which spermatogenesis is mostly normal.In addition to the common mutations of cystic fibrotic transmembrane conductance regulator(CFTR),the mutations and copy number variation of adhesion G protein-coupled receptor G2(ADGRG2)are also considered to be the pathogenesis of CBAVD.We report a case of CBAVD with spermatogenesis failure.Besides the bilateral absence of vas deferens,testicular histopathology indicated sertoli cell only syndrome.Genetic analysis was then performed to determine the causes.However,whole exome sequencing did not show the pathogenic variation and/or copy number variation of CBAVD as well as other genes related to spermatogenesis failure.The exact cause of this case was still unclear.The coexistence of CBAVD and spermatogenesis failure indicated the complexity of genetic etiology of azoospermia.

关 键 词：不育 男(雄)性 先天性双侧输精管缺如 无精子症 精子发生 遗传学技术 诊断 病例报告 

分 类 号：R698.2[医药卫生—泌尿科学]