无头精子症患者自然生育一例及文献复习  

A patient with acephalic spermatozoa syndrome achieved spontaneous pregnancy:a case report and literature review

作　　者：王家雄[1] 唐慧 许咏乐[1] 郭宏[2] 李红[1] 杨慎敏[1] 向菁菁[1] WANG Jia-xiong;TANG Hui;XU Yong-le;GUO Hong;LI Hong;YANG Shen-min;XIANG Jing-jing(Center for Reproduction&Genetics,Suzhou Hospital Affiliated to Nanjing Medical University,Suzhou 215002;Forensic Identification Center,Suzhou Hospital Affiliated to Nanjing Medical University,Suzhou 215002)

机构地区：[1]南京医科大学附属苏州医院生殖与遗传中心,苏州215002 [2]南京医科大学附属苏州医院司法鉴定中心,苏州215002

出　　处：《生殖医学杂志》2022年第1期76-80,共5页Journal of Reproductive Medicine

基　　金：江苏省卫生健康委科技面上项目(H2018050);江苏省妇幼健康资助面上项目(F201866);中华医学会临床医学研究专项(18010270756);姑苏卫生人才项目(GSWS2019053);苏州市科技计划发展项目(SYSD2020129)。

摘　　要：无头精子症(acephalic spermatozoa syndrome,ASS)是精子头颈连接的异常,其特征是精子数量少,精子头部缺失。多数ASS的遗传病因是SUN5缺陷,至今没有ASS患者自然生育的报道。本院生殖与遗传中心接收到一例原发不育男性患者,精子形态学分析结果显示为典型的ASS。采集患者外周血进行全外显子测序及Sanger测序验证,并对其女儿进行亲子鉴定。结果发现患者携带SUN5基因复合杂合突变(c.781G>A[p.Val261Met]和c.1043A>T[p.Asn348Ile]),女儿为患者亲生并携带c.1043A>T杂合突变。本研究首次报道了一例自然生育的SUN5缺陷患者,并进行相关文献复习,以期为无头精子症患者的遗传咨询和临床诊疗提供参考。Acephalic spermatozoa syndrome(ASS)is abnormal connection between sperm head and neck,which is characterized by low sperm counts and loss of sperm head.The genetic cause of ASS was reported as deficient in the gene SUN5.So far,there are no reports of natural fertility in patients with ASS.The reproductive and genetic center of our hospital adopted a primary infertile male patient.The sperm morphological analysis showed a typical ASS.The peripheral blood of the patient was collected for whole exome sequencing and Sanger sequencing validation,and a paternity test was conducted for his daughter.The results found that the patient carried compound heterozygous mutations in SUN5 gene(c.781G>A[p.Val261Met]and c.1043A>T[p.Asn348Ile]),and his daughter was identified as his biological daughter and carried c.1043A>T hybrid.This paper firstly reported that a patient with SUN5-deficiency was procreation spontaneously,and a review of related literatures was carried out in order to provide references for genetic counseling and clinical diagnosis and treatment of patients with ASS.

关 键 词：男性不育 SUN5 无头精子症 精子 

分 类 号：R698[医药卫生—泌尿科学]