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PLCZ1复合杂合突变患者行ICSI结合卵母细胞辅助激活1例并文献复习

A case of PLCZ1 complex heterozygous mutation underwent ICSI combined assisted oocyte activation and literature review

摘要回顾性分析1例男性不育患者多次受精失败及挽救受精的治疗过程。患者在外院行体外受精( in vitro fertilization,IVF)和卵胞质内单精子注射(intracytoplasmic sperm injection,ICSI)治疗3个周期均受精异常,在湖北医药学院附属人民医院生殖医学中心经不孕不育基因panel检测及Sanger测序验证,确定患者 PLCZ1基因复合杂合突变,基因突变分别来源于父母双方;女方基因检测未发现异常突变。本中心给予女方改良高孕激素状态下促排卵方案,取卵9枚,9枚成熟卵母细胞全部行ICSI结合10 μmol/L离子霉素卵母细胞辅助激活(assisted oocyte activation,AOA),正常受精7枚,形成7枚卵裂期胚胎,冷冻2枚优质卵裂期胚胎。2个月后女方行冻融胚胎移植获生化妊娠。同时我们对国内外关于 PLCZ1基因突变的文献和AOA相关文献进行复习。从本病例得出如下提示:①当IVF周期出现不受精或多精受精,并且ICSI全受精失败时,需进行夫妻双方基因检测查找遗传因素。② PLCZ1基因突变主要导致受精失败,ICSI结合AOA是挽救受精失败的有效方法,离子霉素对卵母细胞活化效果显著,胚胎形成未受影响,优质胚胎具有着床能力。但仍需要积累病例数据,验证离子霉素AOA的安全性。

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abstractsThe treatment process of multiple fertilization failure and salvage fertilization in a male infertile patient was retrospectively analyzed. The patient underwent in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) in another hospital for 3 cycles, all of which had fertilization abnormalities. The complex heterozygous mutation of PLCZ1 gene was detected by infertility gene paneland confirmed by Sanger sequencing in the Reproductive Medicine Center of Renmin Hospital, Hubei University of Medicine, and the gene mutation was derived from both parents. No abnormal mutations were found in the woman's genetic testing. The woman underwent progestin-primed ovarian stimulation, resulting in the retrieval of 9 oocytes. ICSI combined with 10 μmol/L ionomycin assisted oocyte activation (AOA) was applied to all mature eggs,resulting in 7 normal fertilized oocytes and 7 cleavage embryos, 2 high-quality cleavage embryos were frozen. Two months later, the woman underwent frozen-thawed embryo transfer to obtain biochemical pregnancy. Simultaneously, we reviewed the literature on PLCZ1 gene mutations and AOA related literature at home and abroad. From this case we can draw the following conclusions: 1) When no fertilization or polyspermia occurs in an IVF cycle and total fertilization fails in ICSI, genetic testing of both spouses is required to find genetic factors. 2) The mutation of PLCZ1 gene mainly leads to fertilization failure. ICSI combined with AOA is an effective method to rescue fertilization failure. Ionomycin has a significant effect on oocyte activation, and has no effect on embryo formation. However, we still need to accumulate case data to verify the safety of ionomycin AOA.

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中华生殖与避孕杂志

中华生殖与避孕杂志

2025年45卷6期

618-622页

ISTICPKUCSCDCA

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