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

Fertil Steril. 2017 Jan;107(1):74-82.e7. doi: 10.1016/j.fertnstert.2016.09.015. Epub 2016 Oct 25.


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.

Keywords: Male infertility; Y-chromosome microdeletions; chromosome abnormalities; testicular cancer; testicular dysgenesis syndrome (TDS).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Biopsy
  • Chromosome Aberrations
  • Cross-Sectional Studies
  • DNA Mutational Analysis
  • Denmark
  • Fertility* / genetics
  • Genetic Predisposition to Disease
  • Hormones / blood
  • Humans
  • Infertility, Male / diagnosis*
  • Infertility, Male / genetics
  • Infertility, Male / pathology
  • Infertility, Male / physiopathology
  • Karyotype
  • Karyotyping
  • Male
  • Middle Aged
  • Mutation
  • Phenotype
  • Predictive Value of Tests
  • Retrospective Studies
  • Risk Factors
  • Semen Analysis
  • Testis / pathology*
  • Young Adult


  • Hormones