A novel sequence variation in the transactivation regulating domain of the androgen receptor in two infertile Finnish men

Objective: To study a new sequence variant at the beginning of the CAG repeat in the exon I of the androgen receptor gene. Design: Controlled clinical study. Setting: Healthy volunteers in an academic research environment. Patient(s): Sixty-two Finnish men with spermatogenic failure and 60 controls. Intervention(s): ABI PRISM 377 (Applied Biosystems, Foster City, CA) automated sequencing. Main Outcome Measure(s): Determining the sequence around the CAG repeat of the AR gene. Result(s): A new 173A-->T (Q58L) substitution at the beginning of the CAG repeat in the transactivation-regulating domain of the androgen receptor was found in 2 infertile Finnish men but not in 60 other infertile men or 60 controls. Conclusion(s): As the polyglutamine tract coded by the CAG repeat is crucial to spermatogenesis, the 173A-->T (Q58L) substitution might be the cause of infertility in these two Finnish men.