A case of PLCZ1 complex heterozygous mutation underwent ICSI combined assisted oocyte activation and literature review
10.3760/cma.j.cn101441-20241105-00405
- VernacularTitle: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
- Author:
Yueyue HU
1
;
Qianyi WANG
1
;
Xu YAN
1
;
Zhifeng SUN
1
;
Xin ZHANG
1
;
Ying ZHANG
1
;
Changjun ZHANG
1
Author Information
1. 湖北医药学院附属人民医院生殖医学中心 湖北省生殖医学临床医学研究中心 湖北医药学院生物医学工程学院，十堰 442000
- Publication Type:Journal Article
- Keywords:
Sperm injection, intracytoplasmic;
Assisted oocyte activation;
Ionomycin;
PLCZ1;
Total fertilization failure
- From:
Chinese Journal of Reproduction and Contraception
2025;45(6):618-622
- CountryChina
- Language:Chinese
-
Abstract:
The 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.
