摘要精子鞭毛多发形态异常(multiple morphological abnormalities of the sperm flagella，MMAF)是一种遗传缺陷导致的畸形精子症。由于精子鞭毛缺失、短小、卷曲、弯折或不规则，以及不同畸形的组合，患者的精子活力低下，超微结构呈现以鞭毛轴丝中心微管缺失为主要特征的鞭毛组装异常，以及纤维鞘、外周致密纤维、线粒体鞘和动力蛋白臂等结构的缺陷。MMAF男性无法自然生育，需借助辅助生殖技术获得后代。由于MMAF分子病因的异质性，导致患者的辅助生殖结局不尽相同。本文总结了已发现的MMAF候选基因及其功能机制，为MMAF的临床诊疗和研究提供参考。

abstractsMultiple morphological abnormalities of sperm flagella (MMAF) is a type of teratospermia caused by genetic defects. The sperm motility is low due to absence of flagella, shortness, curling, bending or irregularity of sperms, and combination of various abnormalities. Ultrastructure may show flagellum assembly abnormalities, which are mainly manifested by the absence of microtubules in the axoneme and defects of various structures such as fibrous sheath, outer dense fiber, mitochondrial sheath and dynein arms. MMAF males are unable to reproduce naturally and require assisted reproductive technology to obtain offsprings. For the heterogeneity of molecular etiology of MMAF, the outcome of assisted reproduction may be different. Here the candidate genes of MMAF and their functional mechanisms are summarized, which may provide a reference for clinical diagnosis, treatment and research for this disorder.