Sex chromosomal analysis of spermatozoa from infertile men using fluorescence in situ hybridization

Purpose: To confirm an association between male infertility and chromosome aberrations of spermatozoa, we demonstrated the frequency of numerical abnormalities of spermatozoa from infertile men with abnormal semen parameters compared with fertile controls. Method: Sperm cells from 10 infertile patients were investigated for disomy rates of sex chromosomes and chromosome 18 and diploidy by fluorescence in situ hybridization (FISH). All patients showed oligoasthenozoospermia with sperm counts 3-20 x 10(6)/ml and motile rates 0-40%. Results: Regarding XY disomy, a significantly higher frequency was found in 8 of 10 patients as compared to normal fertile men. The disomy rates of chromosome 18, XX, YY, and diploidy rate were not increased. Conclusions: There is an association between male infertility and embryo with aneuploidy of sex chromosomes. Counseling about possible genetic risks should be provided to the infertile couples planning assisted reproduction treatment.