Research

The association between male infertility and sperm disomy: Evidence for variation in disomy levels among individuals and a correlation between particular semen parameters and disomy of specific chromosome pairs

Helen G Tempest⁴ , Sheryl T Homa² , Maria Dalakiouridou¹ , Dimitra Christopikou¹ , David Wright³ , Xiao P Zhai² and Darren K Griffin⁴

¹Cell and Chromosome Biology Group, Department of Biological Sciences, Brunel University, Uxbridge, UK

²112 Harley Street, London, UK

³Medicines Control Agency, Market Towers, 1 Nine Elms Lane, London, UK

⁴Department of Biosciences, University of Kent, Canterbury, CT2 7NZ, UK

author email corresponding author email

Reproductive Biology and Endocrinology 2004, 2:82doi:10.1186/1477-7827-2-82

Published:	14 December 2004

Abstract

Background

The association between infertility and sperm disomy is well documented. Results vary but most report that men with severely compromised semen parameters have a significantly elevated proportion of disomic sperm. The relationship between individual semen parameters and segregation of specific chromosome pairs is however less well reported as is the variation of disomy levels in individual men.

Methods

In order to address these questions the technique of fluorescent in-situ hybridisation (FISH) was utilised to determine the disomy levels of chromosomes X, Y and 21 in 43 sperm samples from 19 infertile males. The results generated from this study were analysed using logistic regression.

Results

In this study we compared levels of sperm concentration, motility and morphology with levels of sperm disomy for chromosome 21 and the sex chromosomes. Our results suggest that there is considerable variation in disomy levels for certain men. They also suggest that oligozoospermic males have significantly elevated levels of sex chromosome disomy but not disomy 21; they suggest that severe asthenozoospermic males have significantly elevated levels of disomy 21 but not sex chromosome disomy. Surprisingly, severe teratozoopsermic males appeared to have significantly lower levels of sperm disomy for both the sex chromosomes and chromosome 21.

Conclusion

We suggest that the association between sex chromosome disomy and oligozoospermia may be due to reduced recombination in the XY pairing region and discuss the relevance of our findings for the correlations between sperm disomy and sperm motility and morphology.