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真空卵泡综合征是一种卵细胞成熟异常的亚型
Şafak Hatırnaz1, Ebru Hatırnaz1, Justin Tan2
1Mediliv Medical Center, Samsun, Turkey.
Turkish journal of obstetrics and gynecology
|September 4, 2024
概括
试管成熟 (IVM) 和试管受精 (IVF) 在空卵泡综合征 (EFS) 患者中表现出有限的成功,这些患者发现了遗传突变. 在IVM期间收集卵细胞是可能的,但产生的成熟和受精率较低.
科学领域:
- 生殖医学 生殖医学
- 遗传学 遗传学 是一个
- 不孕症研究 不孕症研究
背景情况:
- 空卵泡综合征 (Empty Follicle Syndrome,EFS) 是一种罕见的不孕症,其特点是卵巢前卵泡中没有卵细胞.
- 卵细胞成熟异常 (OMA) 导致EFS,影响受精和活产潜力.
- 了解EFS的遗传基础对于开发有效的治疗策略至关重要.
研究的目的:
- 审查在被诊断患有空综合征 (EFS) 的妇女体外成熟 (IVM) 和体外受精 (IVF) 的结果.
- 通过分析受影响个体的突变来研究EFS的遗传基础.
- 评估不同IVM和IVF协议在管理EFS方面的有效性.
主要方法:
- 一个追溯的案例系列,包括17名患有EFS的妇女,她们至少经历了两次试管婴儿周期.
- 整体外体序列测序被用来识别与EFS相关的遗传突变.
- 治疗方案包括以莱特醇为原料的IVM,FSH-hCG为原料的IVM和传统的IVF.
主要成果:
- 在13名受试者中,IVM卵细胞采集在12名受试者中取得了成功,75%的受试者获得了MII卵细胞.
- 细胞内注射精子 (ICSI) 的受精率为40.9% (9/22个MII卵子).
- 基因分析在七名患者中发现了突变;以莱特醇为原料的IVM和FSH-hCG为原料的IVM显示了部分疗效,但IVM没有导致活产.
结论:
- 患有EFS的女性表现出卵细胞成熟异常 (OMA),成熟,受精和活产的潜力有限.
- 在EFS患者的IVM期间采集的卵细胞显示出由于卵细胞机械缺陷的低发育潜力.
- 拟议的流程图有助于对EFS进行分类,并指导这些具有挑战性的病例的治疗方法.
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