中文摘要：

圆头精子症是一种由于基因突变所导致的严重畸形精子症,为先天性疾病,主要表现为精液中精子头部呈圆形、顶体异常或缺失,其确切的发病机制尚不清楚。研究表明,圆头精子症的相关致病基因主要包括精子发生相关基因16（SPATA16）、蛋白激酶C1（PICK1）、GOPC、HIV-1转动结合蛋白（Hrb）、酪蛋白激酶Ⅱα2亚基（Csnk2a2）和bs等。本文综述了圆头精子症的分子遗传学研究进展,有助于圆头精子症的基因诊断和分子机制研究。

英文摘要：

Globozoospermia,as a severe teratozoospermia caused by gene mutations,is a rare congenital disease with main clinical manifestations of the round head of sperm and abnormality or absence of acrosome,and its precise mechanism is not yet clear.Studies show that the pathogenic genes associated with globozoospermia include SPATA16,PICK1,GOPC,Hrb,Csnk2a2 and bs.This paper outlines the progress in the studies of molecular genetics of globozoospermia,aiming to contribute to the molecular diagnosis and mechanism investigation of the disease.