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目的探讨圆头精子症的临床特征及发病机制。方法对3例圆头精子症患者的助孕结局进行报道并进行文献复习。结果 3例患者均经精子形态学及电镜分析确诊。病例1、2均行ICSI结合人工辅助卵母细胞激活(ICSI-AOA)的授精方式进行助孕治疗,总体受精率为43.5%,均获得临床妊娠,2次分娩共出生2名健康婴儿。病例3第1个周期未施行AOA,卵子均未受精及卵裂,第2个周期使用ICSI-AOA授精,ICSI受精率为20%,受精卵培养到第3天均停止发育。患者全外显子基因分析提示DPY19L2(c.1553_1554 delAT)基因纯合突变。结论 ICSI-AOA可提高圆头精子症患者精子的授精能力;建议相关病例筛查DPY19L2基因突变。
Abstract：Objective:To investigate clinical characteristics and pathogenesis of round-headed spermatozoa(globozoospermia).Methods:The clinical outcomes of 3 patients with 100% globozoospermia were reported and literature review.Results:100% globozoospermia of three patients were confirmed by transmission electron microscopy(TEM) analysis of sperm morphology examination. The first and second patients underwent ICSI treatment combined with artificial oocyte activation(AOA). The overall fertilization rate was 43.5%,all were clinically pregnant,and 2 healthy babies were born in 2 deliveries. In the third patient,AOA was not performed in the first cycle,and the oocytes were not fertilized and cleavage. In the second cycle,ICSI-AOA was performed. The fertilization rate of ICSI was 20%. The development of zygotes stopped on the third day. The whole exomesequencing(WES) analysis revealed a homozygous mutation in the DPY19 L2(c.1553_1554 delAT) gene.Conclusions:ICSI-AOA can increase the fertilization rate of globozoospermia. The globozoospermic patient should be screened for possible DPY19L2 gene mutation.
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基本信息:
中图分类号:R698.2
引用信息:
[1]陈先兵,陈曦,韩红敬,等.3例100%圆头精子症助孕结局报告并文献复习[J].生殖医学杂志,2020,29(10):1328-1332.
2020-03-25
2020
2020-06-16
2020-08-31
2020
1
2020-10-15
2020-10-15