“阻滞型”精子发生障碍的遗传学及其诊疗研究进展

李铮; 许俊伟

doi:10.16016/j.2097-0927.202301076

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“阻滞型”精子发生障碍的遗传学及其诊疗研究进展

专题报道：环境因素对男性生殖健康的影响及机制 | 更新时间：2026-01-09

- “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
- 陆军军医大学学报 2023年45卷第9期页码：869-875
- 作者机构：
  
  1.200080 上海，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
  2.211166 南京，南京医科大学国家生殖医学重点实验室
- 作者简介：
  
  [李铮，主任医师，教授，博士生导师。中国医师协会男科与性医学医师分会常务委员兼总干事长，中国医师协会生殖医学会专业委员会常委兼男科学副组长，上海医师协会男科医师分会副会长，上海市医师协会生殖医学医师分会副会长，亚洲男科学协会秘书长，中国人口与发展研究中心“适龄人群生育力评估及健康干预研究”项目专家委员会主任委员，国家卫健委辅助生殖技术评审专家，全国科学技术名词审定委员会生殖医学名词编写委员会委员，国家司法部司法鉴定标准制定(男性不育与男性性功能评估检测)专家，上海市科技专家库评审成员、美国生殖医学学会(ASRM/SMRU)会员，“十四五”国家科技部重点研发计划首席科学家。美国康奈尔大学、香港中文大学、加拿大渥太华大学访问学者。担任多种国内外男性生殖领域重要期刊如Asian Journal of Andrology等编委或特邀编辑。聚焦精子发生障碍机制与干细胞向精子诱导分化，国际上首次实现从患者睾丸中获取精原干细胞，体外诱导分化为精子细胞，并具有受精潜能；首次证明单精子冻融可安全用于临床，并出生健康子代。牵头主持“十四五”国家科技部重点研发计划1项，参与1项；主持国家自然科学基金面上项目2项、上海市科委项目2项、局级课题7项。累计主持参与国家级/省部级基金项目28项，以通信作者或第一作者在Nature Communications、The American Journal of Human Genetics、Stem Cell Report、Human Reproduction等SCI收录期刊发表论文56篇，在中文核心期刊发表论文46篇，主编主译教材共识等著作14部，申请授权发明专利9项，实用新型专利24项。作为第一完成人，荣获国家高等学校科学研究优秀成果奖(科学技术)科学技术进步奖二等奖、上海医学科技奖一等奖、上海科技进步奖二等奖、华夏医学科技奖三等奖各1项。学会任职期间荣获亚洲男科学协会杰出学术贡献奖、中华医学会泌尿外科分会男科专项奖伏羲奖。主要从事精子发生障碍机制与干细胞向精子诱导分化方面的研究。E-mail：lizhengboshi@sjtu.edu.cnLI Zheng, E-mail: lizhengboshi@sjtu.edu.cn
- 基金信息：
  
  国家重点研发计划(2022YFC2702701)
- DOI：10.16016/j.2097-0927.202301076
  中图分类号： R321.1;R698.2
- 收稿：2023-01-14，
  
  修回：2023-03-01，
  
  纸质出版：2023-05-15
- 稿件说明：
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李铮, 许俊伟. “阻滞型”精子发生障碍的遗传学及其诊疗研究进展[J]. 陆军军医大学学报, 2023,45(9):869-875.

Zheng LI, Junwei XU. Genetic etiology and treatment of "arrested type" spermatogenic failure[J]. Journal of Army Medical University, 2023, 45(9): 869-875.
李铮, 许俊伟. “阻滞型”精子发生障碍的遗传学及其诊疗研究进展[J]. 陆军军医大学学报, 2023,45(9):869-875. DOI： 10.16016/j.2097-0927.202301076.

Zheng LI, Junwei XU. Genetic etiology and treatment of "arrested type" spermatogenic failure[J]. Journal of Army Medical University, 2023, 45(9): 869-875. DOI： 10.16016/j.2097-0927.202301076.

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。

Abstract

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

Keywords

references

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