MỘT SỐ BẤT THƯỜNG DI TRUYỀN THƯỜNG GẶP TRONG VÔ SINH NAM

Abstract

Objective: The aim of the study was to determine the frequencies of common chromosomal abnormalities and Y chromosome microdeletions of men with severe oligozoospermia and azoospermia in Andrology and Fertility Hospital of Hanoi and Military Institute of Clinical Embryology and Histology. Material and methods: Some common chromosomal abnormalities and Y-chromosome microdeletions were investigated with men with severe oligozoospermia and azoospermia between 2016 and 2022. Karyotype analyzes and Y-chromosome microdeletions analyzes [azoospermia factor regions - AZF] were performed in all cases by using standard cytogenetic methods and the multiplex polymerase chain reaction method, respectively. Results: Klinerfelter syndrome were found in 121 cases (8,13%). Y-chromosome microdeletions were detected in 153 cases (10,28%). Y-chromosome microdeletions in the AZFc region were found in 76 of 153 cases (49,67%). Conclusion: The study indicates that cytogenetic and Y-chromosome microdeletion studies should be conducted in cases with men with severe oligozoospermia and azoospermia prior to selecting assisted reproductive techniques.