辅助生殖技术治疗结果在21-基酶缺乏症的女性携带者中
Arthur C Arcaz1, Carlos Hernandez-Nieto2, Joseph A Lee2
1Obstetrics, Gynecology and Reproductive Science, Icahn School of Medicine at Mount Sinai, New York, New York, USA.
The Journal of clinical endocrinology and metabolism
|April 2, 2025
概括
致病性CYP21A2变体的女性携带者与非携带者相比,体外受精结果类似. 辅助生殖技术协议对于这些人来说仍然是标准的.
科学领域:
- 生殖内分泌学 生殖内分泌学
- 人类遗传学 人类遗传学
- 辅助生殖技术 辅助生殖技术
背景情况:
- 在致病性CYP21A2变体的载体中存在明显的激素特征.
- CYP21A2载体地位对辅助生殖技术 (ART) 结果的影响尚未得到充分证实.
研究的目的:
- 为了比较病原性CYP21A2变体的载体和非载体之间的体外受精 (IVF) 结果.
- 为了评估CYP21A2载体在试管婴儿周期中的卵巢刺激反应的差异.
主要方法:
- 追溯队列研究,包括1284名受试者的1556次试管婴儿周期.
- 244名受试者被确定为女性单基因CYP21A2突变载体.
- 在冷单胞胎胚胎移植 (SEET) 后的活产率是主要结果.
主要成果:
- 携带者和非携带者之间没有观察到活产,植入或临床怀孕率的显著差异.
- 卵巢刺激参数在两组之间是可比的.
- 在多变量分析中,受精率的单变量差异并不显着.
结论:
- 致病性CYP21A2变体的女性携带者获得与非携带者相比的体外受精结果.
- 标准ART协议适用于CYP21A2载体.
- 这些发现有助于为携带者提供个性化遗传咨询.
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