Evaluation of chromosome analysis results of male patients who had infertility screening between 2007-2020

1.2. ABSTRACT Aim: In this study, it was aimed to evaluate the analysis results of karyotype and molecular data obtained by cytogenetic and molecular analyzes in patients who applied to the Department of Medical Biology with the diagnosis of male infertility. Materials and Methods: Karyotype analysis and Y chromosome microdeletion analysis were performed in patients who applied with the diagnosis of male infertility between January 2007 and December 2019. Among these patients, Klinefelter syndrome (KS), Y chromosome microdeletion and other chromosomal anomalies were investigated as a result of genetic analysis. In addition, the age and duration of infertility of the patients were recorded. Results: Within the scope of the study, 309 patients were evaluated. Azoospermia was detected in 235 of these patients, oligospermia in 21, and oligoasthenospermia in 13 patients. It was determined that 89 of the patients had a history of first degree consanguineous marriage. 47,XXY genotype (KS) was detected in 46 of the cases, 46,XX (male syndrome) in two cases, 45,X (aspermia) in one case. In addition, 31 different chromosomal disorders were detected. There was no significant difference between consanguineous marriage and abnormal karyotype in Chi-square test (p=0.845). While all individuals with sex chromosome anomaly were azoospermic, oligospermic and oligoasthenospermic cases were seen in different karyotype anomalies. Y microdeletion was detected in 16 cases, and 15 of these cases had azoospermia and one case had oligoasthenospermia. Conclusion: We believe that our study, which has a high number of cases, will be beneficial in revealing the chromosomal and microdeletion anomalies of infertile individuals in Turkey. We also think that it can be a useful resource for male infertility. The low rate may be due to the population of patients undergoing genetic analysis, the difference in gene regions used in screening, and different demographics in different regions. 4 Keywords: Azoospermia, genetic analysis, infertility, karyotype, Klinefelter syndrome, Y chromosome microdeletion.