Chromosomal Abnormalities in Infertile Men from Southern India
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...
Main Authors: | , , , , , |
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Format: | Article |
Language: | English |
Published: |
JCDR Research and Publications Private Limited
2015-07-01
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Series: | Journal of Clinical and Diagnostic Research |
Subjects: | |
Online Access: | https://jcdr.net/articles/PDF/6247/14429_CE(RA1)_F(T)_PF1(PAK)_PFA(AK)_PF2(PAG).pdf |
Summary: | 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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ISSN: | 2249-782X 0973-709X |