Male infertility is a significant reproductive health concern, with genetic abnormalities such as chromosomal aberrations and Y-chromosome microdeletions contributing substantially to severe spermatogenic failure. This cross-sectional study evaluated the prevalence and spectrum of chromosomal abnormalities and Y-chromosome microdeletions in infertile males from Eastern Uttar Pradesh using conventional karyotyping and quantitative fluorescence polymerase chain reaction (QF-PCR). A total of 134 infertile males were enrolled. Semen analysis was performed according to the World Health Organization (WHO) 6th edition guidelines. Peripheral blood samples were subjected to karyotyping, followed by Y-chromosome microdeletion analysis using QF-PCR in individuals with normal karyotypes. Chromosomal abnormalities were identified in 23.1% of cases, with mosaic karyotypes accounting for approximately 18% of the total cohort. Mosaic Klinefelter syndrome (46,XY/47,XXY) was the predominant abnormality, observed in 14.2% of cases. Among men with normal karyotypes (n = 103), Y-chromosome microdeletions were detected in 29% using the AZF v2 kit, mainly involving the AZFb and AZFc regions. Extended STS marker analysis further identified additional deletions in 31% of initially negative cases, including partial AZFc and AZFa-associated deletions, thereby significantly improving the overall diagnostic yield. These findings highlight the importance of a combined cytogenetic and molecular approach for the genetic evaluation of male infertility. While karyotyping remains essential for detecting large chromosomal abnormalities, extended STS-based molecular screening enhances diagnostic yield, particularly in resource-limited clinical settings.
Biochemical genetics. 2026 Apr 03 [Epub ahead of print]
Pooja Dubey, Sameer Trivedi, Nitish Kumar Singh, Abhay Kumar Yadav, Nargis Khanam, Janhavi Yadav, Surbhi Singh, Shraddha Chaurasiya, Royana Singh
Department of Anatomy, Institute of Medical Science, Banaras Hindu University, Varanasi, Uttar Pradesh, 221005, India., Infertility Clinic, Department of Urology, Institute of Medical Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India., Multidisciplinary Research Unit, Institute of Medical Science, Banaras Hindu University, Varanasi, Uttar Pradesh, India., Department of Anatomy, Institute of Medical Science, Banaras Hindu University, Varanasi, Uttar Pradesh, 221005, India. .