圆头精子症致病机制及临床妊娠结局相关研究进展

Pathogenic mechanism and reproductive outcomes in globozoospermia:an update

圆头精子症是一种罕见的畸形精子症,在男性不育患者中约占0.1%,是诉诸第二代试管婴儿[卵胞质内单精子显微注射(ICSI)]的病症之一。圆头精子症的精子头部呈圆形、顶体缺陷,其特征还包括颈部异常和尾部弯曲,这源于精子发生过程出现了异常(顶体形成异常、线粒体及微管排列紊乱、核染色质浓缩延长异常等)。圆头精子症发病具有家族集中倾向。目前已证实5个人类基因和17个小鼠基因与圆头精子症的发生相关。相比传统ICSI技术,结合人工卵子激活(AOA)的ICSI技术对圆头精子症更有效。本文对圆头精子的发现、认识及定义、形态学特征及超微结构、相关基因及发病机制、辅助生殖结局的相关研究进展进行总结及讨论。

Globozoospermia is a rare(0.1%)but severe disorder in male infertility,with round-headed and acrosomeless sperm defects.The pathogenesis of globozoospermia most probably originates in spermiogenesis,more specifically in acrosome formation and sperm head elongation.It is confirmed with genetic origin.Five human genes and 17 mouse genes have been so far confirmed in presenting globozoospermia.Intracytoplasmic sperm injection(ICSI)combined with assisted oocyte activation(AOA)has been proved to be a very efficient fertilization technique when compared with conventional ICSI in globozoospermia.In this paper,the discovery,recognition and definition of round head sperm,morphological characteristics and ultrastructure,related genes and pathogenesis,and the outcome of assisted reproduction in globozoospermic patients were summarized and discussed.