The aim of this study was to evaluate the type and frequency of chromosomal aberrations, Y chromosome microdeletions and CFTR gene mutations in infertile men examined in Sanatorium Pronatal between October 2002 and September 2006. Material and methods: Metaphase chromosomes of 1,389 infertile men, including 130 men with azoospermia and 449 with oligozoospermia were analysed using Giemsa-trypsin-Giemsa banding. Y chromosome microdeletions were examined using multiplex PCR method in 607 infertile men, including 116 with azoospermia. Genetic analysis of CFTR locus was performed using combination of multiplex PCR kit Elucigene 29 and Slavic mutation (CFTRdel21kb) examination. This approach comprises 92.47% of all CFTR mutations in population. Results: Chromosome aberrations were found in 3.2% of infertile men. Y chromosome microdeletions were detected in 1.6% infertile men. CFTR mutations were found in 3.0% examined patients. Strong association of all three investigated parameters with azoospermia and severe oligoasthenozoospermia when compared with normozoospermia was observed. Conclusions: The high rate of abnormalities observed in studied parameters among infertile men suggests the need for routine genetic analysis prior to employment of assisted reproduction. The role of clinical geneticist in treatment of infertile couples is irreplaceable.
