“阻滞型”精子发生障碍的遗传学及其诊疗研究进展  

Genetic etiology and treatment of“arrested type”spermatogenic failure

作　　者：李铮[1,2] 许俊伟 LI Zheng;XU Junwei(Department of Andrology,Shanghai Key Laboratory of Reproductive Medicine,Center for Men’s Health,Urologic Medical Center,Shanghai General Hospital,Shanghai Jiao Tong University School of Medicine,Shanghai,200080;State Key Laboratory of Reproductive Medicine,School of Public Health,Nanjing Medical University,Nanjing,Jiangsu Province,211166,China)

机构地区：[1]上海交通大学医学院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,上海200080 [2]南京医科大学国家生殖医学重点实验室,南京211166

出　　处：《陆军军医大学学报》2023年第9期869-875,共7页Journal of Army Medical University

基　　金：国家重点研发计划(2022YFC2702701)。

摘　　要：精子发生障碍(生精障碍)是男性不育中的疑难重症,临床发病率高,已成为严重影响我国人口生殖健康和人口安全的重大疾病。但由于生精障碍存在显著临床异质性和遗传异质性,目前尚无统一规范的临床诊疗策略与体系。本团队创新性地将生精障碍分为3种亚型:“局灶型”“阻滞型”以及“衰竭型”。其中“阻滞型”生精障碍主要由染色体异常、拷贝数变异、单核苷酸突变等遗传因素导致。本文着重评述“阻滞型”生精障碍的临床分型及遗传病因学研究现状,并结合全外显子测序等技术筛选“阻滞型”生精障碍患者,对“阻滞型”生精障碍的内分泌新辅助治疗、靶向治疗等前沿治疗方案以及结合人工智能的多元精准诊疗体系的建立进行探讨。Spermatogenic failure is a severe disease in male infertility,with high clinical incidence,and seriously affects the reproductive health and population security.However,due to its significant clinical heterogeneity and genetic heterogeneity,there is still no unified and standardized clinical treatment strategy currently.Our team has innovatively classified spermatogenic failure into 3 subtypes:“focal type”,“arrested type”and“exhausted type”.The“arrested type”spermatogenic failure is mainly caused by genetic factors such as chromosomal abnormalities,copy number variations,and single nucleotide mutations.In this paper,we review the phenotype and genetic etiology of“arrested type”spermatogenic failure,then screen the type of patients with the aid of whole-exome sequencing and other technologies,and provide frontier treatment options such as endocrine neoadjuvant therapy and targeted therapy for endocrine neoadjuvant therapy.What’s more,we discuss the establishment of a multifaceted and precise diagnosis and treatment system combined with artificial intelligence.

关 键 词：精子发生障碍 阻滞型 临床表型 遗传病因学 诊疗体系 

分 类 号：R321.1[医药卫生—人体解剖和组织胚胎学] R698.2[医药卫生—基础医学]