Chromosomal Aneuploidy in Azoospermic Men

AbstractThe aim of this study was to estimate the prevalence of chromosome abnormalities in patients with azoospermia, in our material. Preoperative evaluation included routine andrological investigations with 2 semen analysis, ultrasound, hormonal and genetic examinations. In the last three years, 73 biopsies were performed for testicular sperm extraction in 71 patients. Non-obstructive azoospermia was diagnosed in 53 patients (79%). Karyotyping was performed on lymphocyte preparations of 36 men with diagnosis of infertility. In order to obtain exact diagnosis, cytogenetic methods (QFQ-, GTG-, CBG-band and FISH analysis) were complemented with molecular genetic techniques. Patients were included in the assisted reproduction programme on the base of their genetic results. The most characteristic cases were sex numerical deviations, such as XXY (3 cases), XYY (2 cases) and mosaic X0 syndromes (1 case).