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

• Published in: Fertility and sterility Vol. 107; no. 1; pp. 74 - 82.e7
• Main Authors: Olesen, Inge Ahlmann, M.D., Ph.D, Andersson, Anna-Maria, Ph.D, Aksglaede, Lise, M.D., Ph.D, Skakkebaek, Niels Erik, M.D., D.M.Sc, Rajpert–de Meyts, Ewa, M.D., D.M.Sc, Joergensen, Niels, M.D., Ph.D, Juul, Anders, M.D., D.M.Sc
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 01.01.2017
• Subjects: Adult; Biopsy; Chromosome Aberrations; chromosome abnormalities; Cross-Sectional Studies; Denmark; DNA Mutational Analysis; Fertility - genetics; Genetic Predisposition to Disease; Hormones - blood; Humans; Infertility, Male - diagnosis; Infertility, Male - genetics; Infertility, Male - pathology; Infertility, Male - physiopathology; Internal Medicine; Karyotype; Karyotyping; Male; Male infertility; Middle Aged; Mutation; Obstetrics and Gynecology; Phenotype; Predictive Value of Tests; Retrospective Studies; Risk Factors; Semen Analysis; testicular cancer; testicular dysgenesis syndrome (TDS); Testis - pathology; Y-chromosome microdeletions; Young Adult; testicular cancer; testicular dysgenesis syndrome (TDS); chromosome abnormalities; Y-chromosome microdeletions; Male infertility
• ISSN: 0015-0282; 1556-5653
• DOI: 10.1016/j.fertnstert.2016.09.015

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 <5 million/mL. Conclusion(s) We report pathologic findings that could explain the male-factor infertility in two-thirds of infertile men referred to our center. Thus, male infertility may be a sign of an underlying disease that warrants attention.