An increased incidence of autosomal aneuploidies in spermatozoa from a patient with Klinefelter’s syndrome

Abstract

Objective To determine whether there is an increased incidence of autosomal aneuploidies in spermatozoa from a subject with nonmosaic Klinefelter’s syndrome. Design Analysis of sperm nuclei by fluorescence in situ hybridization. Setting Hospital-based laboratory for reproductive biology. Patient(s) A patient with Klinefelter’s syndrome and a 46,XY fertile man were analyzed. Intervention(s) The sperm samples were prepared for fluorescence in situ hybridization. Main outcome measure(s) The disomy frequencies for chromosomes 7, 9, 13, 18, and 21 and sex chromosomes were determined using fluorescence in situ hybridization. Result(s) Significant differences were found in the frequency of disomy for chromosomes 13, 18, and 21 between the patient and a normospermic control. No significant differences were observed for chromosomes 7 and 9. The frequencies of gonosomal abnormalities and diploid spermatozoa were also significantly increased in the patient. Conclusion(s) Our results indicate that there is an increased incidence of autosomal aneuploidies for chromosomes 13, 18, and 21 in the spermatozoa from the patient with Klinefelter’s syndrome than in the general population. Furthermore, most of the studies have also shown an increased frequency of autosomal aneuploidy in the spermatozoa from 46,XY males with oligozoospermia or oligoasthenoteratozoospermia. Thus, the offspring of the patients with Klinefelter’s born by intracytoplasmic sperm injection may be at higher risk of autosomal aneuploidy due to oligoasthenoteratozoospermia.