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

Abstract

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 ami-noacid 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 hor-mone (recFSH) (900 IU daily), no follicular growth was seen and estradiol le-vels remained low. In vitro maturation (IVM) was then suggested. Ten oo-cytes were successfully vitrified.