Follicle stimulating hormone receptor gene variants in women with primary and secondary amenorrhea.

ABSTRACT:

Purpose

This retrospective study was designed to analyze the FSHR gene variants in subjects with primary and secondary amenorrhea with hypergonadotropic hypogonadism.

Materials and methods

Eighty six women with primary or secondary amenorrhea and 100 normally cycling proven fertile women of Indian origin were retrospectively studied. These subjects were systematically screened for entire FSHR gene.

Results

The frequency distribution of polymorphism at -29 position of FSHR gene is altered in women with primary and secondary amenorrhea as compared to controls. AA genotype at -29 position of FSHR gene seems to be associated with increased serum FSH levels in the study subjects. We have identified a novel homozygous mutation C(1723)T (Ala(575)Val) in one woman with primar

SUBMITTER: Achrekar SK 

PROVIDER: S-EPMC2914595 | biostudies-literature | 2010 Jun

REPOSITORIES: biostudies-literature