Novel inactivating follicle-stimulating hormone receptor mutations in a patient with premature ovarian insufficiency identified by next-generation sequencing gene panel analysis.

ABSTRACT:

Objective

To find the genetic etiology of premature ovarian insufficiency (POI) in a patient with primary amenorrhea and hypergonadotropic hypogonadism.

Design

Case report.

Setting

University hospital.

Patients

A Belgian woman aged 32 years with POI at the age of 17, her parents, and her sister whose POI was diagnosed at age 29.

Interventions

Analysis of a panel of 31 genes implicated in POI (POIGP) using next-generation sequencing (NGS), Sanger sequencing, and in vitro functional study.

Main outcome measures

Gene variants, family mutational segregation, and in vitro functional impact of the mutant proteins.

Results

The analysis of the gene panel using NGS identified the presence of two novel follicle-stimulating hormone receptor (FSHR</

SUBMITTER: Sassi A 

PROVIDER: S-EPMC8244262 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature