Role of mitotic control in spermatogenesis

Objective: To study the correlation between the incidence of sex chromosome aneuploidies in the somatic cells and spermatozoa in karyotypically normal infertile men and fertile donors. Design: A prospective, phase two, controlled study. Setting: A teaching Hospital Reproductive Medicine and Medical Genetics Uni ts. Patient(s): Ten patients with idiopathic oligozoospermia and 10 sperm donor s with proven fertility, all with a normal karyotype 46,XY. Intervention(s): Multicolor fluorescence in situ hybridization (FISH) of pe ripheral blood lymphocytes and spermatozoa using a probe cocktail containin g the alpha satellite DXZ1 for the X centromere, DYZ1 for the heterochromat ic region of the long arm of the Y, and cosmids D21S259, D21S341, and D21S3 42 fur Down syndrome critical region of chromosome 21. Main Outcome Measure(s): The incidence of chromosome X, Y, and 21 aneuploid ies in peripheral lymphocytes and spermatozoa in both groups. Result(s): The incidence of aneuploidies related to chromosomes X, Y, and 2 1 were significantly higher in peripheral lymphocytes and spermatozoa of in fertile men compared with donors. There was a positive correlation between the incidence of chromosome aneuploidies in the somatic cells and sperm in all men. Conclusion(s): These findings provide suggestive evidence for the importanc e of mitosis in spermatogenesis and the role of mitotic instability in unex plained oligozoospermia. (C) 2000 by American Society for Reproductive Medi cine.