The first analysis of exon 1 (the transactivation domain) of the androgen receptor gene in infertile men with oligospermia or azoospermia

Objective: To examine the role of the androgen receptor (AR) gene in spermatogenesis by evaluating infertile men with idiopathic oligospermia or azoospermia, with special emphasis on the transactivation domain (exon 1) of AR gene because it has not been studied in this population previously. Study Design: A molecular study of the AR gene. Deoxyribonucleic acid samples were screened for possible AR gene mutations using polymerase chain reactions (PCR). Setting: The offices and laboratories of the Medical College of Georgia. Participants: Infertile men with oligospermia or azoospermia and an otherwise negative laboratory evaluation. Controls consisted of healthy fertile men. Main Outcome Measures: Each exon (2 to 8) and each of five overlapping exon segments for exon 1 of the AR gene was amplified using PCR for each participant's DNA sample. The PCR products were evaluated by size using electrophoresis and a DNA size marker. Results: Sixteen idiopathic oligospermic or azoospermic men entered the study. All seven exons and the five overlapping segments of exon 1 were amplified and were of the appropriate size on electrophoresis when compared with controls, the DNA size marker, and the exon sequence. Conclusions: Preliminary protein studies on AR suggested that up to 40% of infertile men may have AR abnormalities. Since the availability of molecular analysis, no studies to date have evaluated the transcriptional activation domain (exon 1) of the AR gene in this population of infertile men. Our study found no gross AR mutations in the individuals studied. These results emphasize the importance of further studies needed to understand the regulation of spermatogenesis.