Mendelian genetics of male infertility

Ann N Y Acad Sci. 2010 Dec:1214:E1-E17. doi: 10.1111/j.1749-6632.2010.05917.x.

Abstract

Infertility is defined as the inability of a couple to conceive despite trying for a year, and it affects approximately 15% of the reproductive-age population. It is considered a genetically lethal factor, as the family lineage stops at that individual with no progeny produced. A genetic defect associated with an infertile individual cannot be transmitted to the offspring, ensuring the maintenance of reproductive fitness of the species. However, with the advent of assisted reproductive techniques (ART), we are now able to overcome sterility and bypass nature's protective mechanisms that developed through evolution to prevent fertilization by defective or deficient sperm.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Animals
  • Humans
  • Infertility, Male / genetics*
  • Infertility, Male / pathology
  • Infertility, Male / therapy*
  • Male
  • Mendelian Randomization Analysis / methods*
  • Mendelian Randomization Analysis / trends
  • Reproductive Techniques, Assisted / trends
  • Spermatogenesis / physiology