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 < or =3,000,000/ 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 in 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.