In order to assess the significance of chromosome abnormalities and polymorphic chromosomal variants in male infertility, the results of cytogenetic studies of 90 patients (32 azoospermic and 58 oligozoospermic men) were compared with those of 30 control fertile men in Estonia. Total chromosome alterations were revealed in 47.8% of infertile men. Major chromosomal abnormalities had a 10-fold increase (13.4%) in infertile males (15.6% in azoospermics and 12% in oligozoospermics) compared to the control group. In azoospermics, the most prevalent were sex chromosomal abnormalities (47,XXY)(12%), whereas a Robertsonian translocation, t(13;14) was found in one patient (3.1). In contrast, in the oligospermia group the most frequent abnormalities were autosomal (10%), of which 6.9% were translocations. Sex chromosomal abnormalities were found very rarely (1.7%). Incidence of chromosomal variants was high (38%), but similar in all groups. The most frequently observed polymorphisms involved chromosome 9. In conclusion, chromosomal abnormalities found with a high frequency in infertile males are a major cause of male infertility, and justify the requirement of cytogenetic analysis in every infertile man.
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