High frequency of XY disomy in spermatozoa of severe oligozoospermic men

Hum Reprod. 2001 Apr;16(4):703-8. doi: 10.1093/humrep/16.4.703.

Abstract

Frequencies of disomy and diploidy in spermatozoa for chromosomes X, Y and 18 were compared among severe oligozoospermic men (<5x10(6) spermatozoa/ml), oligozoospermic men (5-20x10(6) spermatozoa/ml), and normospermic men using three-colour fluorescence in-situ hybridization (FISH). Semen samples were collected from 10 severe oligozoospermic men aged 26-49 years, 10 oligozoospermic men aged 27-48 years and seven normospermic men aged 25-31 years. Karyotypes in lymphocytes obtained from peripheral blood were all 46,XY. In severe oligozoospermic men, analysis of 200 interphases per individual using FISH showed XY constitutions for sex chromosomes in all cells. A minimum of 10 000 sperm nuclei per individual for each chromosome was evaluated in severe oligozoospermic men and oligozoospermic men, and a minimum of 6000 sperm nuclei per individual in normospermic men. In total, 245 707 sperm nuclei were evaluated. The hybridization efficiency was 99.8%. The severe oligozoospermic men showed significantly higher frequencies of XY disomy (0.41%) and diploidy (0.49%) compared with oligozoospermic men (0.16%, P < 0.01; 0.22%, P < 0.05) and normospermic men (0.18%, P < 0.05; 0.21%, P < 0.05) (Mann-Whitney U-test). The data suggest that when severe oligozoospermic men undergo intracytoplasmic sperm injection, there can be an increase in the rate of conceptuses with 47,XXY chromosomes.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Chromosome Aberrations*
  • Chromosomes, Human, Pair 18
  • Diploidy
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Male
  • Middle Aged
  • Oligospermia / genetics*
  • Reference Values
  • Spermatozoa / physiology*
  • X Chromosome*
  • Y Chromosome*