梗阻性无精子症的遗传学研究进展  

Advances in the genetics of obstructive azoospermia

作　　者：姚晨成 李朋[1] 田汝辉[1] 赵亮宇[1] 杨超[1] 陈慧兴[1] 智二磊[1] 黄煜华[1] 张丽[1] 彭云鹏 李铮[1] Yao Chencheng;Li Peng;Tian Ruhui;Zhao Liangyu;Yang Chao;Chen Huixing;Zhi Erlei;Huang Yuhua;Zhang Li;Peng Yunpeng;Li Zheng(Department of Andrology,Center for Men's Health,Institute of Urology,Urologic Medical Center,Shanghai General Hospital,Shanghai Key Lab of Reproductive Medicine,Shanghai Jiao Tong University,Shanghai 200080,China;Department of Urology,the Affiliated Hospital of Xuzhou Medical University,Xuzhou 221006,China)

机构地区：[1]上海交通大学附属第一人民医院泌尿外科中心男科,男性健康评估中心,上海市生殖医学重点实验室,200080 [2]徐州医科大学附属医院泌尿外科,221006

出　　处：《中华生殖与避孕杂志》2020年第12期1038-1042,共5页Chinese Journal of Reproduction and Contraception

基　　金：国家重点专项研发计划(2017YFC1002003);上海交通大学医工(理)交叉基金(YG2017ZD04);上海市青年科技英才扬帆计划(20YF1439500);国家自然科学基金(82001530)。

摘　　要：无精子症占男性不育的10%~15%,约占男性总体人群的1%,其中梗阻性无精子症占40%。梗阻性无精子症可以由多种因素导致,其中包括男性生殖管道炎症及遗传学因素等,但是由于梗阻性无精子症患者睾丸内精子发生并无明显异常,睾丸穿刺取精结合辅助生育技术即可使患者生育自身子代,因此其遗传学病因常常被忽略,继而后期的辅助生殖策略以及子代出生缺陷研究也常常被忽视。本文就梗阻性无精子症的人群遗传学病因以及梗阻性无精子症动物模型两方面问题的研究进展进行综述,以期为临床诊疗、遗传咨询以及男性避孕药物研发提供新思路。Azoospermia accounts for 10%-15%of male infertility,with the prevalence of 1%in male population.Obstructive azoospermia(OA)accounts for 40%of azoospermia and can be caused by a variety of factors,including male reproductive duct inflammation and genetic factors.Given the fact that the spermatogenesis is normal in the testis of OA patients,the OA patients can have their own offspring through testicular biopsy and sperm retrieval followed by assisted reproductive technology(ART).Therefore,the genetic etiology of OA is often overlooked.Subsequently,studies of the following ART strategies and offspring birth defects are also ignored.This article reviewed the genetic disorders of OA patients,and the animal model with OA,providing new ideas for management of OA patients,genetic counseling,and development of male contraceptives.

关 键 词：男性不育 梗阻性无精子症 遗传学 

分 类 号：R698.2[医药卫生—泌尿科学]