Cytogenetic and Y chromosome microdeletion analysis in azoospermic patients: Insights into genetic causes of male infertility.

Objective: Azoospermia, the most severe form of male infertility, is characterized by the absence of sperm in the ejaculate as a result of spermatogenesis failure. The aim of this study was to identify genetic anomalies associated with Y chromosome microdeletions and sex chromosomal aneuploidy. Material and Methods: A total of 134 azoospermic patients were included in the study. Following a general clinical evaluation and laboratory testing, karyotype analysis and Y chromosome microdeletion screening were performed. Results: The study included 134 infertile males with azoospermia. The overall rate of cytogenetic anomalies was 9.7%. Chromosomal abnormalities were detected in 7 of 134 cases (5.2%). The most common genetic abnormality was 47, XXY (Klinefelter syndrome), with a prevalence of 3.7%. Y chromosome microdeletions were identified in 5 patients (3.7%). Conclusion: This study highlights the significant role of genetic factors, particularly chromosomal abnormalities and Y chromosome microdeletions, in the etiology of azoospermia. In addition, Y chromosome microdeletions were identified in a notable subset of cases. These findings emphasize the importance of comprehensive genetic screening, including both karyotype analysis and Y chromosome microdeletion testing, in the diagnostic evaluation of azoospermic men to guide clinical management and genetic counseling. [ABSTRACT FROM AUTHOR]