Sperm chromosome aneuploidy analysis in a man with globozoospermia

Abstract

Objective To determine the frequencies of chromosome aneuploidy and diploidy in sperm from a male with globozoospermia. Design Assessment of sperm chromosome aneuploidy and diploidy frequencies by multicolor fluorescence in situ hybridization (FISH) analysis. Setting University research laboratory. Patient(s) An infertile patient with round-headed sperm (globozoospermia). Intervention(s) Sperm samples were obtained by masturbation for cytogenetic analysis. Main outcome measure(s) Aneuploidy and diploidy frequencies were assessed by multicolor FISH analysis for chromosomes 1, 15, 21, X, and Y and compared with those of five control donors. Result(s) A minimum of 10,000 sperm was analyzed per chromosome probe, for a total of 30,145 sperm. There was a statistically significantly increased frequency of XY disomy in the man with globozoospermia compared with the case in normal donors. The frequency of aneuploidy for chromosomes 1, 15, 21, XX, and YY was not statistically significantly increased. The frequency of diploidy was also not statistically significantly different. Conclusion(s) A previous report demonstrated an increased frequency of chromosome 15 aneuploidy in sperm of a globozoospermia patient who fathered a trisomy 15 conceptus. No other report has studied the frequency of chromosome 15 aneuploidy in these infertile men. Our study does not demonstrate an increased risk for chromosome 15 aneuploidy associated with globozoospermia. However, an elevated frequency of XY disomy was discovered, which is the most common type of chromosome abnormality observed in sperm of infertile men.