精子鞭毛多发形态异常的临床诊断

Clinical diagnosis of multiple morphological abnormalities of the sperm flagella

精子鞭毛多发性形态异常(MMAF)是一种严重的精子鞭毛畸形,典型MMAF患者精子尾部出现缺失、短、卷曲、弯折和不规则等,从而导致精子活力严重不足;透射电镜观察鞭毛横断面出现中心微管缺失、纤维鞘和外层致密纤维结构紊乱、动力蛋白臂缺失等超微结构缺陷。MMAF的遗传学病因尚未完全明确,是目前该疾病临床与转化研究所关注的重点。MMAF的临床诊断缺乏统一标准和流程。本综述重点讨论了其诊断策略,为临床MMAF的诊疗提供参考。

Multiple morphological abnormalities of the sperm flagella （MMAF） are severe deformity of the sperm fla- gella. In patients with typical MMAF, the sperm tails are absent, short, curled, bent and irregular, leading to severe impaired sperm motility. Under the transmission electron microscope, the defects of the central microtubule, disorders of fibrous sheath and outer dense fibrous, and absence of dynein arms appear in the transverse section of the flagellum. The genetic causes of MMAF have not been completely disclosed yet and remain the focus of clinical and translational research. Nowadays, there are still no standards and procedures for the clinical diagnosis of MMAF. In this review, we will focus on the diagnostic strategies of MMAF in order to provide a reference for its clinical diagnosis and treatment.