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反复自发的卵母细胞激活可导致女性不孕。

Recurrent spontaneous oocyte activation causes female infertility.

机构信息

Department of Pathology and Laboratory Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

College of Medicine, Alfaisal University, Riyadh, 11533, Saudi Arabia.

出版信息

J Assist Reprod Genet. 2022 Mar;39(3):675-680. doi: 10.1007/s10815-022-02435-x. Epub 2022 Feb 14.

Abstract

PURPOSE

Spontaneous oocyte activation (SOA) is a recently classified phenomenon characterized by the presence of a single pronucleus immediately following oocyte retrieval, without the apparent involvement of sperm. SOA currently remains poorly understood in humans, with no clear genetic or pathological factor(s). Herein, we report two separate cases of recurrent spontaneous oocyte activation, investigating potential avenues to identify causative etiology.

METHODS

Two patients with several cycles with SOA have undergone further genetic and embryologic investigation to reveal underlying causes for SOA and provide a treatment if possible.

RESULTS

One case was a patient with recurrent pregnancy loss and the other was diagnosed as unexplained infertility. In the first case, 61 out of 69 oocytes retrieved exhibited SOA in five cycles while in the second case 44 out of 49 oocytes exhibited SOA in five cycles. Oocytes were injected with sperm; embryo development and presence of paternal contribution were investigated. No pregnancy is ensued following embryo transfer in both patients. Time-lapse imaging of embryogenesis from the second case did not reveal even momentary second pronucleus appearance. We also performed clinical whole exome sequencing for both patients but did not identify any disease-causing variant.

CONCLUSION

Patients with SOA suffer from infertility. Our results indicate that more investigation is required to understand the etiology of SOA in humans concentrating on the molecular mechanisms that underpin regulation of oocyte activation and calcium dynamics need to be investigated to fully understand, and perhaps in the future rectify, recurrent SOA.

摘要

目的

自发性卵母细胞激活(SOA)是一种最近分类的现象,其特征是在卵母细胞回收后立即存在单个原核,而没有明显涉及精子。目前,SOA 在人类中仍知之甚少,没有明确的遗传或病理因素。在此,我们报告两例复发性自发性卵母细胞激活病例,以探讨潜在的病因学途径。

方法

两名反复出现 SOA 的患者进行了进一步的遗传和胚胎学调查,以揭示 SOA 的潜在病因,并尽可能提供治疗方法。

结果

一例为复发性妊娠丢失患者,另一例诊断为不明原因不孕。在第一例中,5 个周期中有 69 个卵母细胞中 61 个表现出 SOA,而在第二例中,5 个周期中有 49 个卵母细胞中 44 个表现出 SOA。卵母细胞被注射精子;研究胚胎发育和父系贡献情况。两名患者胚胎移植后均未怀孕。来自第二例的胚胎发生的时差成像甚至没有显示出瞬间的第二原核出现。我们还对两名患者进行了临床全外显子组测序,但未发现任何致病变异。

结论

患有 SOA 的患者患有不孕症。我们的结果表明,需要进一步研究以了解人类 SOA 的病因,集中研究卵母细胞激活和钙动力学的调控的分子机制,以全面了解并在未来可能纠正复发性 SOA。

相似文献

1
Recurrent spontaneous oocyte activation causes female infertility.反复自发的卵母细胞激活可导致女性不孕。
J Assist Reprod Genet. 2022 Mar;39(3):675-680. doi: 10.1007/s10815-022-02435-x. Epub 2022 Feb 14.
3
Oocyte activation deficiency: a role for an oocyte contribution?卵母细胞激活缺陷:卵母细胞的作用?
Hum Reprod Update. 2016 Jan-Feb;22(1):23-47. doi: 10.1093/humupd/dmv040. Epub 2015 Sep 7.

本文引用的文献

1
Human embryonic genome activation initiates at the one-cell stage.人类胚胎基因组激活始于单细胞阶段。
Cell Stem Cell. 2022 Feb 3;29(2):209-216.e4. doi: 10.1016/j.stem.2021.11.012. Epub 2021 Dec 21.

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