ORIGINAL ARTICLE Oestrogen receptors beta genotype in infertile Egyptian men with nonobstructive azoospermia A.-K. H. Younes 1 , H. B. Hamed 2 , E.-E. M Mohamed 1 , M. A. E. Makki 1 , N. Gaber 2 & H. M. Mohamed 3 1 Dermatology and Andrology department, Al-Azhar University, Assiut, Egypt; 2 Clinical Pathology department, South Egypt Cancer Institute, Assiut University, Assiut, Egypt; 3 Dermatology and Andrology department, Ministry of Health, General Mallawi Hospital, Minea, Egypt Keywords Azoospermia—male infertility—oestrogen receptor Correspondence Essam-Elden Mohamed Mohamed, MD, Department of Dermatology and Andrology, Al-Azhar University (Assiut), Egypt. Tel.: +00201001470452; Fax: +0020882181257; E-mail: dessam73@yahoo.com Accepted: January 27, 2016 doi: 10.1111/and.12575 Summary In a prospective study, the polymorphism of oestrogen receptor b 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 analy- sis, hormonal profile and allele-specific PCR reaction were performed to detect variants of the RsaI polymorphism of the oestrogen receptor b 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 corre- lation between ERß polymorphisms and patient’s age or pituitary and sex hor- mones (P > 0.05). Our findings suggested that in Egyptian population, genetic mutation in ERß is associated with the risk of nonobstructive azoospermia. Introduction Infertility is defined as a failure to conceive after 12 months of unprotected sexual intercourse (World Health Organiza- tion, 2001). Male factor is responsible for 30–50% of cases of infertility, and as many as 20% of infertile men are diag- nosed as azoospermic (Bhasin et al., 1994). Oestrogens play key roles in the development and maintenance of male reproductive function and fertility (O’Donnell et al., 2001; Hess, 2003; Carreau & Hess, 2010; Joseph et al., 2011). Oestrogen action is mediated through two receptors (ESR), ESR1 and ESR2 (also known as ERa and ERß respec- tively) that belong to the nuclear receptor family of tran- scription factors (Heldring et al., 2007; Stanisic et al., 2010). ERa is known to be strongly expressed in the epi- didymis, efferent ductules and Leydig cells, whereas ERß is predominantly expressed in germ cells, particularly in the primary spermatocytes and round spermatids of the human testis (Enmark et al., 1997; Saunders et al., 2002). These data suggest that ERß may also play an important role in male infertility (Zhang et al., 2011). Accordingly, the aim of this study was to evaluate the relationship between the ERß gene polymorphism and nonobstructive azoospermia in infertile Egyptian patients. Material and methods Study participants This hospital-based case–control study was conducted at the Department of Dermatology and Andrology, Al-Azhar University, Assiut, Egypt. Ninety Egyptian nonobstructive azoospermia patients (diagnosed after two semen analyses 1 month apart and negative testicular sperm extraction during intracytoplasmic sperm injection), and 60 fertile men as controls were recruited. The study was approved by the local institutional ethics committee of faculty of medicine, Al-Azhar University (Assiut). All participants were informed about the nature of the study, and written informed consent was obtained. All patients were included in this study, provided a complete history and underwent general and genital examinations. All patients were asked to deliver a semen © 2016 Blackwell Verlag GmbH 1 Andrologia 2016, xx, 1–5