title: Clinical, genetic, biochemical, and testicular biopsy findings among 1,213 men evaluated for infertility.
abstract: To study the pathologic findings among men evaluated for infertility.
  
  
  
  A retrospective, single-center, cross-sectional study.
  
  
  
  University hospital-based research center.
  
  
  
  We included data from 1,213 medical records from infertile men referred for diagnostic work-up from 2005 to 2009.
  
  
  
  None.
  
  
  
  Health history, clinical findings, chromosome/genetic aberrations, semen quality, reproductive hormones.
  
  
  
  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.
  
  
  
  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.
authors: Department of Growth and Reproduction, International Research and Research Training Center in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark. Electronic address: iao@dadlnet.dk.
authors: Inge Ahlmann
authors: IA
authors: Olesen
authors: Department of Growth and Reproduction, International Research and Research Training Center in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
authors: Anna-Maria
authors: AM
authors: Andersson
authors: Department of Clinical Genetics, Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
authors: Lise
authors: L
authors: Aksglaede
authors: Department of Growth and Reproduction, International Research and Research Training Center in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
authors: Niels Erik
authors: NE
authors: Skakkebaek
authors: Department of Growth and Reproduction, International Research and Research Training Center in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
authors: Ewa
authors: E
authors: Rajpert-de Meyts
authors: Department of Growth and Reproduction, International Research and Research Training Center in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
authors: Niels
authors: N
authors: Joergensen
authors: Department of Growth and Reproduction, International Research and Research Training Center in Endocrine Disruption of Male Reproduction and Child Health (EDMaRC), Rigshospitalet, University of Copenhagen, Copenhagen, Denmark.
authors: Anders
authors: A
authors: Juul
mesh_terms: D000328:Adult; D001706:Biopsy; D002869:Chromosome Aberrations; D003430:Cross-Sectional Studies; D004252:DNA Mutational Analysis; D003718:Denmark; D005298:Fertility / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006728:Hormones / Q000097:blood; D006801:Humans; D007248:Infertility, Male / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D059785:Karyotype; D007621:Karyotyping; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010641:Phenotype; D011237:Predictive Value of Tests; D012189:Retrospective Studies; D012307:Risk Factors; D055101:Semen Analysis; D013737:Testis / Q000473:pathology*; D055815:Young Adult
chemical_list: D006728:Hormones
keywords: Male infertility; Y-chromosome microdeletions; chromosome abnormalities; testicular cancer; testicular dysgenesis syndrome (TDS)