Incidence of genetic causes of idiopathic male infertility in Serbia: Ten years’ experience of single centre

Abstract

The aim of the study was to estimate the type and the prevalence of chromosomal abnormalities and Y-chromosome microdeletions, analysed together for the first time in idiopathic infertile men in Serbia. During 10 years period among 823 couples with infertility problems, in 110 cases the cause of infertility was severe oligospermia or azoospermia in male partners. All of them underwent cytogenetic analysis, performed according to standard techniques. Testing for the presence of Y-chromosome microdeletions in AZF regions using multiplex PCR was done in all patients with normal karyotype (97) and in three cases with cytogenetically visible aberrations of Y chromosome, in order to specify the breakpoints. The overall prevalence of chromosomal abnormalities in the group of 110 infertile men was 11.82%. The most frequent aberration was Klinefelter syndrome (47, XXY), being found in 5.45%. Chromosomal aberrations were found in 13.89% in group of men with azoospermia, and in 7.89% in group of men with severe oligospermia. Among the infertile men with normal karyotype, the incidence of microdeletions of AZF regions was 7.22%. Two types of deletions were identified: AZFc and AZFbc, with frequencies of 6.19% and 1.03%, respectively. Y-chromosome microdeletions were found in 6.45% of azoospermic patients, and in 8.57% of severe oligospermia group of patients. Our findings demonstrate the presence of higher frequency of chromosome aberrations and Y-microdeletions in a group of infertile men with azoospermia/oligospermia in Serbia. Results confirmed importance of offering these tests as part of genetic counselling of infertile couples in our country.