Investigation of genotype-phenotype correlation in patients with AZF microdeletion in Turkish population

Objective: Infertility is defined as the inability to conceive within 1 year period without using any prevention method. Although it affects approximately 10-15% of the population, 35-50% is due to male factor partially or completely. Azoospermia, which is the absence of sperm in the ejaculate accounts for 10-20% of male infertility cases and affects 2% of the male population. Genetic causes of azoospermia include a range of genetic disorders, such as chromosomal abnormalities, monogenic disorders, multifactorial diseases and epigenetic factors. In this study, we aimed to elucidate the relationship between AZF deletion type and clinical information of patients with AZF microdeletion in Turkish population. Materials and Methods: Patients with azoospermia who referred to Ege University, Faculty of Medicine Department of Urology and Ege University, Family Planning and Infertility Research and Application Center between January 2009 and March 2019 were enrolled to the study. Among these patients, cases with normal karyotype and with AZF microdeletion were analyzed retrospectively by collecting clinical data including hormone profile, demographic characteristics and micro-TESE results. Results: As a result of the AZF microdeletion tests of 42 cases with 46, XY karyotype, AZFa deletion in 3 cases, AZFb deletion in 2 cases, AZFc deletion in 31 cases, AZFb + AZFc deletion in 4 cases and AZFa + AZFb + AZFc deletion in 2 cases were detected. After micro-TESE, sperm was obtained in 16 cases with AZFc microdeletion. Pregnancy was achieved in 2 cases. There was no statistically significant difference between the type of deletion and age, height, weight, body mass index, hormone profile and testicular volume. Conclusion: In our study, the highest number of patients in the Turkish population, which fully evaluated the micro-TESE results, hormonal and demographic data was reached in 42 patients with AZF microdeletions and with normal karyotype. Also, genotype-phenotype correlation was found to be consistent with the literature; particularly patients having AZFc deletions were found to have a chance for pregnancy.