Canary in the Coal Mine? Male Infertility as a Marker of Overall Health

Annu Rev Genet. 2020 Nov 23:54:465-486. doi: 10.1146/annurev-genet-022020-023434.


Male factor infertility is a common problem. Evidence is emerging regarding the spectrum of systemic disease and illness harbored by infertile men who otherwise appear healthy. In this review, we present evidence that infertile men have poor overall health and increased morbidity and mortality, increased rates of both genitourinary and non-genitourinary malignancy, and greater risks of systemic disease. The review also highlights numerous genetic conditions associated with male infertility as well as emerging translational evidence of genitourinary birth defects and their impact on male infertility. Finally, parallels to the overall health of infertile women are presented. This review highlights the importance of a comprehensive health evaluation of men who present for an infertility assessment.

Keywords: DNA repair; birth defects; chromosomal abnormalities; disorders of sexual differentiation; male infertility; systemic disease.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Animals
  • Female
  • Humans
  • Infertility, Female / mortality
  • Infertility, Female / pathology
  • Infertility, Male / mortality*
  • Infertility, Male / pathology*
  • Male