Sapporo Medical Journal

Abstract : Background and aim: The inability of a man to make his clinically fertile woman partner pregnant is known as male infertility. Several published studies have demonstrated that men who are infertile have a greater risk of chromosomal abnormalities than those who are fertile. Male infertility has been linked to various variables, including genetic and environmental factors. This study aimed to examine the hormonal changes and establish the incidence and kind of chromosomal alterations in infertile men with azoospermia and oligozoospermia. Materials and Methods: The traditional study of GTG-banded metaphases from cultured lymphocytes was conducted on 120 individuals with primary infertility. The retrieved data included medical history, family history, sperm analysis, and hormone profiles. The polymerase chain reaction was used to detect Yq11 microdeletions in all men with oligospermia/azoospermia with normal karyotypes. Results: The incidence rate of chromosomal abnormalities was 5.8%. A total of 65.8% of the men exhibited azoospermia, with 6.3% having chromosomal abnormalities. Oligozoospermia affected 33.3% of men, with 2.5% having chromosomal abnormalities. In 5.8% of cases (07/120), chromosomal abnormalities were detected. Two of the seven men had the karyotype of Klinefelter's syndrome, which is the most frequent numerical sex chromosomal abnormality. One patient had mosaic chromosomal aberration 46,XY (88%)/45,X (12%), and another had 46,XX (SRYpositive) chromosomal makeup