Chromosomal Abnormalities in Infertile Men from Southern India
Published: July 1, 2015 | DOI: https://doi.org/10.7860/JCDR/2015/.6247
Jaganathan Suganya, Smita B Kujur, Kamala Selvaraj, Muthiah S. suruli, Geetha Haripriya, Chandra R. Samuel
1. Research Scholar, Department of Genetics, Dr. ALMPGIBMS, University of Madras, Taramani, Chennai, Tamil Nadu, India.
2. Project Fellow, Department of Genetics, Dr. ALMPGIBMS, University of Madras, Taramani, Chennai, Tamil Nadu, India.
3. Obstetrician and Gynecologist, G.G Hospital, 6-E, Thirumoorthy Nagar, Nungambakkam High Road, Nungambakkam, Chennai, Tamil Nadu, India.
4. Director & Embryologist, Kanmani Fertility Centre, 43, South Usman Road, T Nagar, Chennai, Tamil Nadu, India.
5. Obstetrician & Gynaecologist, Prashanth Fertility Research Centre, 77, Harrington Road, Chetpet, Chennai, Tamil Nadu, India.
6. Associate Professor, Department of Genetics, Dr.ALMPGIBMS, University of Madras, Taramani, Chennai, Tamil Nadu, India.
Correspondence
Dr. Chandra R Samuel,
Associate Professor, Department of Genetics, Dr. ALMPGIBMS,
University of Madras, Taramani, Chennai-600113, India.
E-mail: nchandrarsamuel@gmail.com
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.
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