Primer infertil erkeklerdeki Y-kromozom mikrodelesyon sıklığı

Abstract

OBJECTIVES: There are SRY (sex-determining region Y) region, which plays a role in testicular development, and genes related to spermatogenesis on the Y chromosome. Its long arm contains the azoospermia factor (AZF) region (AZFa, AZFb, and AZFc subregions). Microdeletions in this region are responsible for azoospermia and oligospermia and cause male infertility. The aim of this study was to analyze the incidence of microdeletion in the AZF region of the Y chromosome in male patients with primary infertility with azoospermia and oligospermia. MATERIAL and METHODS: A total of 206 male patients were analyzed between December 2020 and December 2022. The diagnosis of azoospermia and oligospermia was made based on semen analysis. Patients with normal karyotype were included in the study. For the definitive diagnosis of microdeletions in the AZF region, 20 different sequence tagged sites (STS) were used, including the recommendation of the European Academy of Andrology (EAA) and the European Molecular Genetics Quality Network (EMQN). Each region was amplified by polymerase chain reaction (PCR) method and analyzed by fragment method in ABI 3500 DNA Sequence instrument. RESULTS: Microdeletion was detected in the AZF region of the Y chromosome in 17 of 206 patients (8%, 3) with normal karyotype. With the study, we identified the deletions of each subregion of AZF in our population. The presence of microdeletions in the AZFc region was most common. b2/b4 complete AZF/c microdeletions were higher than the g/gr partial AZF/c deletion. CONCLUSION: The study confirmed that the incidence of microdeletion of AZF subregions in primary infertile male patients was 8%,3 and was prognostically significant. The frequency of Y chromosome microdeletion was found to be consistent with the literature. Keywords: AZF region, azoospermia, oligospermia, primary male infertility, Y-chromosome microdeletion