The Effect of FSHR (G2039A) Polymorphism on Müllerian Duct Development and Hormonal Profile of Women with Primary Amenorrhea

The function of follicle-stimulating hormone (FSH) is mediated by binding to its G-protein coupled receptor (GPCR) which is expressed on granulosa cells of the ovary. The purpose of the current study was to examine the impact of FSHR G2039A polymorphism (rs6166; Ser680Asn) on clinical and radiology profiles of women with primary amenorrhea (PA) in Gujarat, India.

A total of 90 women (45 controls and 45 cases) were recruited for the study after obtaining informed consent. The DNA extraction was performed on the venous blood samples collected from the participants, followed by polymerase chain reaction (PCR). The presence of polymorphism was then analyzed using restriction fragment polymorphism (RFLP) with the BSeNI enzyme. The statistical analysis was conducted using an independent t-test, chi-square test, and ANOVA. Significance was determined by a p<0.05.

Results revealed that homozygous wild type genotype was observed in 46.7% (n=21) of the control group and 11.1% (n=5) of the case group. Heterozygous genotype was observed in 33.3% (n=15) of the control group and 55.6% (n=25) of the case group (p<0.001). Homozygous mutant genotype was observed in 20% (n=9) of the control group and 33.3% (n=15) of the case group (p<0.01). The hormonal profile revealed that serum levels of FSH and luteinizing hormone (LH) were significantly higher (p<0.05) in the AA and AG genotypes compared to the GG genotypes.

The FSHR rs6166 G2039A was associated with PA in women, and the A allele could be considered a causative risk factor in developing the condition.