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 primary amenorrhea.

Conclusions: Our findings suggest that increased serum FSH levels in subjects with primary amenorrhea correlated to FSHR genotype at position -29. We identified a novel homozygous mutation C(1723)T (Ala(575)Val) in a woman with primary amenorrhea.

Fig. 1

a Partial electropherogram from DNA sequencing of PCR product showing C¹⁷²³C (Ala at 575 position) indicating wild-type sequence, b Partial electropherogram of PCR product showing T¹⁷²³T (Val at 575 position) indicating mutant sequence (Accession No FJ211856). c RFLP analysis using Msc I restriction enzyme for detecting C¹⁷²³T mutation. Lane 1: undigested PCR product of 219 bp; lane 2: 100 bp molecular weight marker; lanes 3–5 and 7–8: two fragments of 127 bp and 92 bp indicating CC genotype (wild-type homozygous); lane 6: 219 bp fragment indicating loss of restriction site (mutant homozygous)