Microdeletions in the Y chromosome of infertile men

N Engl J Med. 1997 Feb 20;336(8):534-9. doi: 10.1056/NEJM199702203360802.


Background: Some infertile men with azoospermia or severe oligospermia have small deletions in regions of the Y chromosome. However, the frequency of such microdeletions among men with infertility in general is unknown. We sought to determine the prevalence of Y-chromosome microdeletions among infertile men and to correlate the clinical presentation of the men with specific deletions.

Methods: We studied 200 consecutive infertile men. Each man was evaluated comprehensively for known causes of infertility, and Y-chromosome microdeletions were studied with use of the polymerase chain reaction to amplify specific regions of the chromosome. The Y chromosomes of 200 normal men were also analyzed.

Results: Fourteen infertile men (7 percent) and four normal men (2 percent) had microdeletions of the Y chromosome. Nine of the infertile men had azoospermia or severe oligospermia (sperm concentration, <5 million per milliliter), four had oligospermia (sperm concentration, 5 million to <20 million per milliliter), and one had normospermia (sperm concentration, > or = 20 million per milliliter). The size and location of the deletions varied and did not correlate with the severity of spermatogenic failure. The fathers of six infertile men with microdeletions were studied; two had the same deletions as their sons, and four had no deletions.

Conclusions: A small proportion of men with infertility have Y-chromosome microdeletions, but the size and position of the deletions correlate poorly with the severity of spermatogenic failure, and a deletion does not preclude the presence of viable sperm and possible conception.

MeSH terms

  • Adult
  • Case-Control Studies
  • Chromosome Deletion*
  • Chromosome Mapping
  • Humans
  • Infertility, Male / etiology
  • Infertility, Male / genetics*
  • Karyotyping
  • Male
  • Oligospermia / genetics
  • Polymerase Chain Reaction
  • Sperm Count
  • Y Chromosome / genetics*