完全圆头精子症5例报告

Total globozoospermia-a report of 5 Cases

目的报道5例完全圆头精子症患者的临床表型、精子特点以及辅助生殖结局。方法观察5例完全圆头精子症患者精液常规参数、精子形态、遗传学病因和卵胞浆内单精子注射(intracytoplasmic sperm injection,ICSI)临床结局,并对患者1进行了精子超微结构和精子顶体反应检测。结果5例完全圆头精子症患者除患者5外,均呈现不同程度的精子活力低下,精子形态观察发现精子头部呈圆形、顶体缺失并伴随精子尾部围绕头部的卷曲,患者精子不发生顶体反应。患者3采取卵母细胞激活后正常受精2枚(2/7),胚胎移植2枚,足月生产2孩。患者1、2、4、5受精情况分别为5/6,3/5,0/6和0/23,无临床妊娠,均为基因DPY19L2缺陷。结论完全圆头精子症可出现精子头和尾部缺陷,不能发生顶体反应。即使采取卵母细胞激活,ICSI受精率低,临床结局不佳。

Objective To analyze the clinical phenotype,sperm characteristics and assisted reproductive technology outcomes of 5 patients with total globozoospermia.Methods A retrospective analysis of semen quality parameters,sperm morphology,genetic etiology and intracytoplasmic sperm injection(ICSI)outcomes was carried out in 5 patients with total globozoospermia.Sperm ultrastructure and sperm acrosome reaction of patient 1 was tested.Results Sperm motility exhibited different degrees of decrease in 5 patients with total globozoospermia except patient 5.The sperm morphological analysis showed that the patients’sperm heads were round,with the absence of acrosomes and the sperm tails curled around the heads.There was no acrosome reaction in the patients’sperm.For patient 3,2 normal fertilization were found after activation of oocytes(2/7),2 embryos were transferred,and 2 children were born.The fertilization status of patients 1,2,4,and 5 were 5/6,3/5,0/6,and 0/23,respectively,without clinical pregnancy.All the five patients had DPY19 L2 deficiency.Conclusion Patients with total globozoospermia have low sperm quality and insufficient fertilization capacity due to multiple defects in sperm head and tail.At present,intracytoplasmic sperm injection(ICSI)is the only therapy,but the outcome is still not ideal even with oocyte activation.