[Chromosomal disorders in the background of azoospermia]

Nowadays more and more couples face the fact that they cannot have babies in spite of many years of trying. The male factor can be identified in about half of these cases.

The aim of this study was to analyse chromosomal alterations in patients with azoospermia. These patients may be candidates for testicular sperm retrieval and intracytoplasmatic sperm injection.

Preoperative evaluation included routine andrological investigation with 2 semen analysis, ultrasound, hormonal and genetic examination. Traditional histological examination and embryological diagnostic of tissue samples was performed. Cryopreservation of retrieved testicular tissue was also done. Between January 2001 and June 2005 73 biopsies were performed in 71 patients for testicular sperm extraction. In order to obtain an exact diagnosis, the traditional cytogenetic methods and fluorescence in situ hybridization analyses were performed in combination with molecular genetic techniques. Patients were offered to participate in the assisted reproduction programme on the base of their genetic results.

In this study, the most characteristic cases were numerical deviations, such as 47,XXY (2 cases), mosaic 47,XXY/49,XXXXY (1 case), 47,XYY (1 case) and mosaic 46,XY/45,X (1 case) karyotypes. Non-obstructive azoospermia was diagnosed in 53 patients (79%).

Authors emphasised the importance of cyto- and molecular examinations in cases of genetical disorders. The results provide a chance for patients to be spared from long-drawn moreover psychological burdening examinations. In addition the costs of different clinical intervention could be saved too.