ABSTRACT
In a prospective study, the polymorphism of oestrogen receptor ß 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 ß 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.