Chromosomal abnormalities and Y chromosome microdeletions in patients with azoospermia and cryptozoospermia

Purpose: To identify genetic abnormalities in patients with azoospermia and cryptozoospermia examined and treated at Da Nang Hospital for Women and Children. Materials and Methods: A cross-sectional descriptive study was conducted at the Assisted Conception Unit, Da Nang Hospital for Women and Children from December 2020 to September 2023 including 72 cases of azoospermia and cryptozoospermia that met the inclusion and exclusion criteria and were included in the study. Results: The average age of the study subjects was 31.8±5.5 years old. The average duration of infertility was 3.8 ± 3.2 (years). There were ten cases of genetic abnormalities, accounted for 13.9% (10/72), of which three cases of chromosomal abnormalities accounted for 4.2% (3/72) and seven cases of Y chromosome microdeletions accounting for 9.7% (7/72). All cases of Y chromosome microdeletions have normal karyotypes. Of the three cases of chromosomal abnormalities, there were two cases of Klinefelter syndrome accounting for 2.8% and one case of chromosomal structural abnormality characterized by reciprocal translocation between the long arm of chromosome 9 and the short arm of chromosome 18 (46,XY,DER(9;18)(Q22;P11.3)). The rate of chromosomal polymorphism was 31.9%. The rate of Y chromosome microdeletions in the AZFc region was highest at 71.4%, of which 60% of the deletions in the AZFc region were gr/gr and 40% were b2/b4 deletions. Conclusions: The genetic abnormalities in this study were similar to some studies in Asia and other regions around the world. Testing of karyotype and Y chromosome microdeletions is required in patients with azoospermia and cryptozoospermia.