Abstract
Chromosomal abnormalities are one of the major causes of male infertility. But the exact mechanism by which chromosomal anomalies induces infertility is still not clear. Many studies have documented the chromosomal abnormalities ranging from 2.2% to 15.7% in infertile men. The present study has been carried out to document and find out the genetic cause of male infertility in the Southern region of India. The cytogenetic analysis of 200 male infertile cases, referred due to primary infertility from 2009 to 2012, were analyzed by GTG banding and evaluated retrospectively. The semen analysis was also performed. A total of 15 cases (7.5%) showed chromosomal aberrations. Four (2%) were 47, XXY and mosaic 47,XXY; Two (1%) were structural autosomal abnormalities; Two (1%) were inversion Y; Seven (3.5%) cases were Y heterochromatin variants and 185 cases (92.5%) showed normal 46,XY karyotype. The chromosomal abnormalities in our study is also in agreement with the data from the literature. Also abnormal spermatogenesis is observed in these cases. Apart from chromosomal analysis further in depth molecular analysis and genetic counseling is suggestive in such cases, especially those interested in IVF technologies.
Highlights
Male infertility is characterized by the inability of a sex-ually active, non-contraceptive couple to achieve pregnancy within one year [1]
Chromosomal abnormalities play a significant role in male infertility with 10% to 15% of aberrations [6,7] among which 5% of these are numerical or structural abnormalities, 80% to 85% of cases are due to sex chromosome anomalies and about 2% are mosaics with autosomal abnormalities [8,9,10,11]
In our study we aimed to investigate the percentage of chromosomal abnormalities associated among infertile males in the southern region of India
Summary
Male infertility is characterized by the inability of a sex-ually active, non-contraceptive couple to achieve pregnancy within one year [1]. Chromosomal abnormalities play a significant role in male infertility with 10% to 15% of aberrations [6,7] among which 5% of these are numerical or structural abnormalities, 80% to 85% of cases are due to sex chromosome anomalies and about 2% are mosaics with autosomal abnormalities [8,9,10,11]. This value increases to about 15% in Azoospermia males, largely due to cases with 47,XXY aneuploidy.
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