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Cytogenetic and Y chromosome microdeletion analysis in azoospermic patients: Insights into genetic causes of male infertility
Metin Eser1, Gülam Hekimoğlu2, Ferhat Yakup Suçeken31Department of Medical Genetics, University of Health Sciences, Umraniye Training and Research Hospital, Istanbul, Turkey2Department of Histology and Embryology, University of Health Sciences, International Faculty of Medicine, Istanbul, Turkey
3Department of Urology, University of Health Sciences, Umraniye Training and Research Hospital, Istanbul, Turkey
INTRODUCTION: 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.
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%).
DISCUSSION AND 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.
Keywords: Azoospermia, infertility, microdeletion, Y chromosome.
Manuscript Language: English
