Chromosomal Abnormalities in Infertile Men from Southern India

• Main Authors: Jaganathan Suganya, Smita B Kujur, Kamala Selvaraj, Muthiah S. Suruli, Geetha Haripriya, Chandra R. Samuel
• Format: Article
• Language: English
• Published: JCDR Research and Publications Private Limited 2015-07-01
• Series: Journal of Clinical and Diagnostic Research
• Subjects: azoospermia; chromosomal polymorphisms; insertion; klinefelter syndrome; male infertility; oligozoospermia; reciprocal translocation
• Online Access: https://jcdr.net/articles/PDF/6247/14429_CE(RA1)_F(T)_PF1(PAK)_PFA(AK)_PF2(PAG).pdf

Background and Objective: Male infertility has been associated with aneuploidies and structural chromosomal abnormalities, Yq microdeletions and specific gene mutations and/or polymorphisms. Besides genetic factors, any block in sperm delivery, endocrine disorders, testicular tumours, infectious diseases, medications, lifestyle factors and environmental toxins can also play a causative role. This study aimed to determine the constitutional karyotype in infertile males having normal female partners in a south Indian population. Materials and Methods: A total of 180 men with a complaint of primary infertility ranging from 1 to 25 years were screened for chromosomal abnormalities through conventional analysis of GTG-banded metaphases from cultured lymphocytes. Results: Four individuals were diagnosed to have Klinefelter syndrome. Two cases exhibited reciprocal translocations and one showed a maternally inherited insertion. Polymorphisms were seen in sixty-seven patients (37.2%). Conclusion: The occurrence of chromosomal abnormalities in 4.6% and variants involving the heterochromatic regions of Y, chromosome 9 and the acrocentric chromosomes in 38.2% of the infertile men with an abnormal seminogram strongly reiterates the inclusion of routine cytogenetic testing and counselling in the diagnostic work-up prior to the use of assisted reproduction technologies.