Evaluation of Y Chromosome Microdeletion and Chromosome Analysis Results in Infertile Male Patients

Objective: Genetic testing for male infertility is rarely performed in our country. Male infertility is caused by chromosome number or structural problems, Y chromosome deletions and gene alterations. Infertility is a problem seen in 15% of couples. Genetic causes are responsible for the etiology of 3-10% of those diagnosed with male infertility due to oligozoospermia and azoospermia. In this retrospective study, we aimed to determine both the chromosomal structure and the microdeletion of the azoospermic factor (AZF) region on the Y chromosome in infertile men admitted to our center before the application of assisted reproductive techniques. Method: We studied 327 patients who applied to our laboratory for routine analysis. Chromosome analysis was performed from peripheral blood by conventional cytogenetic method. DNA was isolated from peripheral blood and Y chromosome microdeletion was analyzed by fragment analysis method with Y chromosome microdeletion detection kit. Results: Out of 327 patients, 32 had cytogenetic and 18 had molecular abnormalities and 4 had both cytogenetic and molecular abnormalities. Numerical and structural anomalies were detected in patients with anomalous karyotype. Among the patients with Y microdeletions, 1 patient had AZFa, 2 patient had AZFb, 6 patients had AZFc, 3 patients had AZFc+d, 2 patients had AZFb+c+d, 1 patient had AZFb+c+sY160, 1 patient had AZFa+b+d+c+sY90, and 2 patient had AZFb+d+c+sY90. Conclusion: Our study shows that chromosomal abnormalities and Y chromosome microdeletions are important causes of male infertility and that chromosome analysis and Y chromosome microdeletion tests should be performed to explain these abnormalities. It also emphasizes the importance of genetic counseling in explaining male infertility.