Cytogenetic and Y chromosome microdeletion analysis in azoospermic patients: Insights into genetic causes of male infertility
Zeynep Kamil Medical Journal, cilt.57, sa.1, ss.44-51, 2026 (Scopus, TRDizin)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 57 Sayı: 1
- Basım Tarihi: 2026
- Doi Numarası: 10.14744/zkmj.2025.04810
- Dergi Adı: Zeynep Kamil Medical Journal
- Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
- Sayfa Sayıları: ss.44-51
- Anahtar Kelimeler: Azoospermia, infertility, microdeletion, Y chromosome
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.