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A Comparison of the Frequency of Sperm Chromosome Abnormalities in Men with Mild, Moderate, and Severe Oligozoospermia¹

Department of Medical Genetics,³ University of Calgary, Calgary, Alberta, Canada T4N 4N1 Department of Genetics,⁴ Alberta Children's Hospital, Calgary, Alberta, Canada T2T 5C7 Cancer Center Biometry Section,⁵ Northwestern University Medical School, Chicago, Illinios 60611-4402 Department of Obstetrics and Gynecology,⁶ University of Calgary, Calgary, Alberta, Canada T4N 4N1

Infertile men undergoing intracytoplasmic sperm injection have an increased frequency of chromosome abnormalities in their sperm. Men with low sperm concentration (oligozoospermia) have an increased risk of sperm chromosome abnormalities. This study was initiated to determine whether men with severe oligozoospermia (<10⁶ sperm/ml) have a higher frequency of chromosome abnormalities in their sperm compared with men with moderate (1–9 x 10⁶ sperm/ml) or mild (10–19 x 10⁶ sperm/ml) oligozoospermia. Multicolor fluorescence in situ hybridization analysis was performed using DNA probes specific for chromosomes 13, 21, X, and Y (with chromosome 1 as an autosomal control for the sex chromosomes). Aneuploidy and disomy frequencies were assessed from a total of 603 011 sperm from 30 men: 10 in each of the categories. The mean frequencies of disomy for the patients with mild, moderate, and severe oligozoospermia were 0.17%, 0.24%, and 0.30%, respectively, for chromosome 13 and 0.22%, 0.44%, and 0.58%, respectively, for chromosome 21. For the sex chromosomes, the mean frequencies of disomy for mild, moderate, and severe oligozoospermia were 0.25%, 1.04%, and 0.68%, respectively, for XY, 0.047%, 0.08%, and 0.10%, respectively, for XX, and 0.04%, 0.06%, and 0.09%, respectively, for YY. The frequencies for diploidy also increased from 0.4% for mild to 1.20% for moderate to 1.24% for severe oligozoospermia. There was a significant inverse correlation between the frequency of sperm chromosome abnormalities and the sperm concentration for XY, XX, and YY disomy and diploidy. These results demonstrate that men with severe oligozoospermia have an elevated risk for chromosome abnormalities in their sperm, particularly sex chromosome abnormalities.

¹ The research was supported by grant MA-7961 from the Canadian Institutes of Health Research. R.H.M. holds the Canada Research Chair in Genetics.

² Correspondence: Renée H. Martin, Medical Genetics Clinic, 1820 Richmond Rd. SW, Calgary, AB, Canada T2T 5C7. FAX: 403 543 9100; rhmartin{at}ucalgary.ca