• PMID: 27038350
• Gene Name: ESR2
• Condition: Nonobstructive azoospermia (NOA), Male infertility
• Association: Associated
• Population size: 150
• Population details: 150 (90 infertile patients with non obstructive azoospermia, 60 fertile men as controls)
• Sex: Male
• Infertility type: Male infertility
• Other associated phenotypes: Nonobstructive azoospermia (NOA), Male infertility

Oestrogen receptors beta genotype in infertile Egyptian men with nonobstructive azoospermia

Younes AH, Hamed HB, Mohamed EM, Makki MA, Gaber N, Mohamed HM.

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. CI - © 2016 Blackwell Verlag GmbH. FAU - Younes, A-K H AU - Younes AH AD - Dermatology and Andrology department, Al-Azhar University, Assiut, Egypt. FAU - Hamed, H B AU - Hamed HB AD - Clinical Pathology department, South Egypt Cancer Institute, Assiut University, Assiut, Egypt. FAU - Mohamed, E-E M AU - Mohamed EM AD - Dermatology and Andrology department, Al-Azhar University, Assiut, Egypt. FAU - Makki, M A E AU - Makki MA AD - Dermatology and Andrology department, Al-Azhar University, Assiut, Egypt. FAU - Gaber, N AU - Gaber N AD - Clinical Pathology department, South Egypt Cancer Institute, Assiut University, Assiut, Egypt.