| 范艳茹.HFM1基因突变致卵巢雌激素生成障碍1例并文献复习[J].安徽医药,待发表. |
| HFM1基因突变致卵巢雌激素生成障碍1例并文献复习 |
|
| 投稿时间：2025-04-08 录用日期：2025-05-09 |
| DOI： |
| 中文关键词: 基因 突变 雌激素生成障碍 HFM1基因 不孕 |
| 英文关键词: |
| 基金项目:山东省自然科学基金面上项目（ZR2021MH012） |
|
| 摘要点击次数: 59 |
| 全文下载次数: 0 |
| 中文摘要: |
| 目的 探讨HFM1基因突变与卵巢雌激素生成障碍之间的联系。方法 本文回顾了青岛大学附属烟台毓璜顶医院生殖医学科接诊的1例确诊“HFM1基因突变”的患者临床资料，并进行文献复习。结果 患者，女，32岁，因“腹腔镜下卵巢囊肿剥除术后停经”至我院就诊，经历多次体外受精/卵细胞质内单精子注射（IVF/ICSI）助孕过程中出现卵巢雌激素生成障碍，通过全外显子基因检测，发现了一种全新的HFM1基因突变类型（c.C3998T:p.S1333L；c.A3320G:p.Q1107R）。结论 HFM1基因在减数分裂、卵巢功能和雌激素生成中起着至关重要的作用，其功能异常可能导致卵巢功能障碍，引发一系列临床问题，基因检测有助于诊断。 |
| 英文摘要: |
| Objective To investigate the association between HFM1 gene mutations and impaired estrogen production in the ovaries. Methods This article reviews the clinical data of a patient diagnosed with an "HFM1 gene mutation" at the Reproductive Medicine Department of Yantai Yuhuangding Hospital, affiliated with Qingdao University, and conducts a literature review. Results The patient, a 32-year-old female, presented to our hospital due to amenorrhea following laparoscopic ovarian cystectomy (with no spontaneous menstruation occurring without pharmacological intervention). During multiple cycles of in vitro fertilization/intracytoplasmic sperm injection (IVF/ICSI) for assisted reproduction, she developed impaired estrogen production in the ovaries. Whole-exome sequencing identified a novel HFM1 gene mutation (c.C3998T:p.S1333L; c.A3320G:p.Q1107R). Conclusion The HFM1 gene plays a critical role in meiosis, ovarian function, and estrogen production. Functional abnormalities of this gene may lead to ovarian dysfunction, resulting in a series of clinical issues. Genetic testing is helpful for diagnosis. |
|
查看/发表评论 下载PDF阅读器 |
| 关闭 |
