Clinical, genetic, biochemical, and testicular biopsy findings among 1,213 men evaluated for infertility

Objective To study the pathologic findings among men evaluated for infertility. Design A retrospective, single-center, cross-sectional study. Setting University hospital–based research center. Participant(s) We included data from 1,213 medical records from infertile men referred for diagnostic work-up from 2005 to 2009. Interventions(s) None. Main Outcome Measure(s) Health history, clinical findings, chromosome/genetic aberrations, semen quality, reproductive hormones. Result(s) In total, 64.4% of the infertile men had one or more reproductive disorders or factors influencing fertility, leaving 35.6% diagnosed as idiopathic infertile. In 244 patients (20%), including seven cases of testicular cancer and/or germ cell neoplasia in situ, a pathologic finding was first detected during diagnostic work-up. Two hundred four patients (16.8%) had a history of cryptorchidism and 154 (12.7%) of varicocele (grade 2 and 3). Thirty-three patients had chromosomal abnormalities, including 16 with sex chromosome abnormalities (11 with 47,XXY). Y-chromosome microdeletions were detected in 65 patients (5.4%). One hundred thirty-three had azoospermia, of which 58 had testicular biopsy findings (Sertoli cell–only syndrome: n = 23; spermatogenic arrest: n = 7; impaired spermatogenesis and atrophy: n = 28). Additionally, in idiopathic infertile men and infertile men with additional symptoms of testicular dysgenesis syndrome, 22.5% presented with a degree of Leydig cell insufficiency, with the highest frequency (33.1%) among patients with sperm concentration