Oestrogen receptors beta genotype in infertile Egyptian men with nonobstructive azoospermia

In a prospective study, the polymorphism of oestrogen receptor β gene was investigated in nonobstructive azoospermia patients. Ninety infertile patients with nonobstructive azoospermia diagnosed after two semen analysis, 2 weeks apart and negative testicular sperm extraction during intracytoplasmic sperm injection, and 60 fertile men as controls were enrolled in the study. Semen analysis, hormonal profile and allele‐specific PCR reaction were performed to detect variants of the RsaI polymorphism of the oestrogen receptor β gene for all patients and controls. The mean patient's age was significantly lower than the mean age of the controls (P < 0.05). There was a significant increase in the mean serum levels of FSH, LH, free testosterone and E2 and significant decrease in total testosterone in patients than controls (P < 0.05). In the patients, the frequency of the homozygous GG, heterozygous AG and homozygous AA genotype was 83.3%, 14.3% and 3.3% respectively, whereas their frequencies in the controls were 95%, 5% and 0% respectively (odds ratio 3.8). There is no significant correlation between ERß polymorphisms and patient's age or pituitary and sex hormones (P > 0.05). Our findings suggested that in Egyptian population, genetic mutation in ERß is associated with the risk of nonobstructive azoospermia.