"Evaluation of four genes associated with primary ovarian insufficiency in a cohort of Mexican women".

ABSTRACT:

Purpose

Primary ovarian insufficiency (POI) is a clinical condition observed in women younger than 40 years of age, characterized by amenorrhea, hypoestrogenism, high levels of follicle-stimulating hormone (FSH), and infertility. Mutations in some master regulators of the development, maturation, and maintenance of ovarian follicles such as BMP15, FSHR, FOXL2, and GDF9 have been suggested as etiological factors in the development of POI. The aim of this study, the first in the Mexican population, is to evaluate the presence of mutations or polymorphisms in these four candidate genes.

Methods

In a sample of 20 Mexican patients with idiopathic POI, we looked for and analyzed genetic variants in BMP15, FSHR, FOXL2, and GDF9 genes.

Results

We observed two polymorphisms: a

SUBMITTER: Juarez-Rendon KJ 

PROVIDER: S-EPMC6086783 | biostudies-literature | 2018 Aug

REPOSITORIES: biostudies-literature