Fertility Preservation in Premature Ovarian Insufficiency (POI) Secondary to FSH Receptor Gene (FSHR) Mutation: Is There a New Hope?

• 作者: Ariane Godbout C. Sylvestre Isaac Jacques Kadoch Pierre Lehmann Pierre-Antoine Pradervand Roland Antaki Simon Phillips Zaki El Haffaf
• 来源期刊: 临床医学病理报告(英文)
• 学科: 医学
• 关键词: FSH Receptor MUTATION FERTILITY Preservation in Vitro MATURATION AMH Primary Ovarian INSUFFICIENCY
• 年，卷（期）: 2017,（10）
• 页码范围: 274-280
• 页数: 7页
• 分类号: R73

摘要

A 19 years old patient with primary amenorrhea was referred to our center. Based on discrepancy between high follicle stimulating hormone (FSH) level and normal ovarian reserve parameters, follicle stimulating hormone receptor (FSHR) mutation was screened. The patient was homozygous in exon 6 of the FSHR gene for the new variant c.479T > C and predicted to result in an aminoacid substitution p.Ile160Thr. One year later, her anti-müllerian hormone (AMH) level inexplicably decreased. Oocyte vitrification was thus offered for fertility preservation. After 17 days of recombinant follicle stimulating hormone (recFSH) (900 IU daily), no follicular growth was seen and estradiol levels remained low. In vitro maturation (IVM) was then suggested. Ten oocytes were successfully vitrified.