Investigation of genotype-phenotype correlation in patients with AZF microdeletion in a single-reference centre.

Abstract

In this study, we aimed to elucidate the relationship between AZF deletion type and clinical information of azoospermic patients with AZF microdeletion in the Turkish population. Azoospermic patients with normal karyotype and AZF microdeletion were analysed retrospectively by collecting clinical data including hormone profile, demographic characteristics and micro-TESE results. As a result of the AZF microdeletion tests of 42 cases with 46 XY karyotype, AZFa deletion was detected 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 respectively. Spermatozoon was obtained in 16 cases with AZFc microdeletion with micro-TESE. 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. When AZF is evaluated according to the type of microdeletion, it will be appropriate to plan the medical and surgical options more carefully in a multidisciplinary manner in cases with deletions including AZFa, AZFb or their combinations. 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.