cytogenetic abnormalities and y chromosome microdeletions in azoospermic and oligospermic infertile males from west of iran

about 15% of couples have infertility problems, half of which are related to male factors. cytogenetic and genetic disorders account for about 10% of the male infertility problems. the aim of this study was to determine the frequency and types of both cytogenetic abnormalities and azf microdeletions of y chromosome in idiopathic azoospermic and oligospermic infertile men in west of iran. in this case-control study, a total of 108 infertile men including 62 azoospermic and 46 oligospermic men were studied for the cytogenetic and azf microdeletions. moreover, 90 fertile men served as a control group. detailed clinical and laboratory examination was done for all participants. karyotyping was done on peripheral blood lymphocytes to detect the cytogenetic abnormalities; likewise, multiplex-pcr method was performed to identify the presence of microdeletion in azfa, azfb or azfc regions. chromosomal abnormalities were detected in 6.5% (7/108) of cases, including two oligospermic men with balanced autosomal rearrangements, one oligospermic and four azoospermic men with klinefelter syndrome. y chromosome microdeletions were detected in 4.6% (5/108) of infertile men (azfc: 3.7%, azfbc: 0.9%). no azfa deletion was detected in any of the patients. no chromosomal abnormality and y chromosome microdeletion was detected in control group. the prevalence of chromosomal abnormalities and y chromosome microdeletions shows the importance of genetic factors in male infertility. the analysis of karyotype and y microdeletions in infertile men provide a proper understanding about the causes of infertility, the choice of the appropriate assisted reproduction technique and reducing the risk of transmission of these genetic defects to the future generation.