Endocrine Abstracts

Background and Objective: Although several epidemiological studies have been conducted, the impact of Follicle Stimulating Hormone Receptor (FSHR) polymorphisms on male infertility remains unclear. The aim of this study was to investigate the prevalence of specific FSHR Single Nucleotide Polymorphisms (SNPs) in the Greek population and associate the latter with the clinical phenotype.

Patients and Methods: We enrolled 96 subjects: men with idiopathic non-obstructive azoospermia (n=78) were compared with a control group with fertile men (n=18) for SNPs in FSHR positions −29, 307, 566 and 680. The SNP in position 566 was assessed by polymerase chain reaction restriction fragment length polymorphism (PCR-RFLP) and the other three SNPs’ (−29, 307, 680) with Single Strand Conformation Polymorphism (SSCP); all of them were validated with DNA sequence.

Results: No SNPs were detected in positions −29 and 307. The heterozygous SNP (AG) at position 680 was associated with different size of the right testis (P=0.080). There was no association between the 566 SNPs polymorphism and hormonal or semen parameters. The combination SNP 680 AA with 566 CT revealed significant association with FSH and LH concentrations.

Conclusions: In our study group, FSHR SNPs at positions −29, 307, 566 and 680 do not appear to play specific roles in male infertility. Larger studies may be needed to confirm these results.

FSH Receptor, FSHR, SNP, Polymorphism, male infertility, fertility.