Sex chromosome aneuploidy rates in the somatic cells of infertile men

OBJECTIVE: A large number of studies have shown that the prevalence of somatic chromosome abnormalities detectable with karyotyping is higher in infertile men. However, a normal somatic karyotype does not exclude the chance of having low level mosaicism. STUDY DESIGN: Eleven men with severe oligozoospermia and 10 healthy, fertile men were included in this study. All the patients had severe oligozoospermia with sperm counts <= 3,000,0001 mL. All participants had normal physical findings and testicular volume. The probe for dual-color fluorescence in situ hybridization consisted of an alpha satellite sequence in the centromeric region of chromosome X (DXZ1) and satellite III DNA at the Yq12 region of chromosome Y (DYZ1). RESULTS: The sex chromosome aneuploidy rate was significantly higher in subjects than in controls (p < 0.001). The median incidence of sex chromosome aneuploidy in the oligozoospermic group was 4.5% (range, 0.8-7.3%), while in the control group it was 0.7% (range, 0.2-1.2%). CONCLUSION: The incidence of aneuploidy in somatic cells is significantly greater in oligozoospermic men than n normal controls. That may suggest that chromosome instability is a result of altered genetic control during mitotic cell division. Our results demonstrate that men with oligozoospermia have an elevated risk for sex chromosome abnormalities in their somatic cells.