Cytogenetic study of 435 subfertile men: incidence and clinical features

To evaluate the incidence of chromosomal anomalies in a series of unselected infertile men.

Four hundred thirty-five consecutive, unselected men with a history of several years of infertility with or without sperm count anomalies and attending our center for karyotype analysis were included in this study. Peripheral blood metaphases were analyzed by standard G and Q banding. When required, fluorescence in situ hybridization and polymerase chain reaction for analysis of specific Y chromosome regions were performed.

Twenty-three of 435 patients (5.2%) had an abnormal karyotype; 18 of these (4.1%) showed numerical or structural anomalies of the sex chromosomes and 5 (1.1%), anomalies of the autosomes.

Our data confirm the importance of karyotype analysis in infertile men, especially in those with sperm anomalies. This analysis can provide useful information also for patients with long-term infertility and considering assisted reproduction techniques.