The relationship between male infertility and increased levels of sperm disomy

Cytogenet Genome Res. 2004;107(1-2):83-94. doi: 10.1159/000079575.

Abstract

Sperm chromosome abnormalities cut across a number of areas relevant to ICC XV. The association between increased levels of sperm aneuploidy (usually disomy) and male infertility has implications for the sessions on reproduction, sex chromosomes, aneuploidy and meiosis and was, to the best of our knowledge, first reported in 1995. Since then most studies have reported similar increases of varying degrees but, despite this, a small number of laboratories have presented results that demonstrate no significant association. The purpose of this article is to review the state of the art in this area and to speculate as to reasons for the differences in reports from different laboratories. The findings are broken down by chromosome with studies of the sex chromosomes being broken down further to indicate meiotic stages of origin. We conclude that comparisons are difficult to make since many studies do not clearly define patient and control groups. Nevertheless, despite these and other differences (such as scoring criteria, technical differences, demographics, etc.), the consensus in the literature is that a strong correlation exists between sperm aneuploidy and male infertility. The nature of that relationship will be further defined when andrological criteria are more closely taken into account and protocols for preparation and scoring are standardised.

Publication types

  • Review

MeSH terms

  • Humans
  • Infertility / genetics*
  • Male
  • Spermatozoa / chemistry*
  • Spermatozoa / metabolism*
  • Uniparental Disomy / genetics*