Chromosomal Aberrations and Polymorphic Evaluation in Males with Primary Infertility from Indian Population

Abstract

Background and objectives: The chromosomal abnormalities are one of the important causes of male infertility. In view of the genetic risks for the next generation, the importance of careful evaluation of karyotype is essential. The objective of this study was to determine the frequency of chromosomal abnormalities in infertile men with primary infertility from Indian population. Materials and Methods:The 78 infertile men with primary infertility, out of which 26 men were azoospermic, 19 men were oligospermic, 4 men were asthenospermic and 29 men were oligoasthenospermic were studied. Karyoptying was performed on peripheral blood lymphocytes by using the Giemsa trypsin banding (GTG) banding technique. Additional data was collected from published studies in Indian population leading to a total of 1814 cases.Results: Chromosome analysis of 78 infertile males showed major chromosome abnormalities in 10.2%, with 6.4% in autosomal chromosome abnormalities and 3.8% in sex chromosome abnormalities. The incidence of major chromosome abnormalities in oligospermic males were 21% and azoospermic males were 15.4 %. Chromosomal polymorphic variants were identified to be 16.7%. Combining the data from other published studies identified 153/ 1814 (8.4%) infertile men of chromosomal abnormalities; with 10.8% in azoospermia, 7.3% in oligospermia and 7.3% in oligoasthenoteratospermic from India.

Correlation of genetic results with testicular histology, hormones and sperm retrieval in nonobstructive azoospermia patients with testis biopsy

“…Studies have reported variable frequency of major chromosomal alterations in patients with male infertility. In our present study, chromosomal alterations in the NOA men were 14.3%, which was higher than published data of the average level (8.2%) and the Indian average level (10.8%) (Akbari, Behjati, Pourmand, Asbagh, & Kachoui, ; Rao et al., ), and were lower than that in some Western countries (14.5%–26.3%) (Akbari et al., ; Akin, Onay, Turker, & Ozkinay, ; Frouzandeh, Saeideh, & Sanaz, ; Kate, Pokale, Jadhav, & Gangane, ; Mohammed et al., ; Rao et al., ). Such variability among different series is likely to be related to a dissimilar composition of the studied populations, mostly to the severity of male factor (Pylyp, Spinenko, Verhoglyad, & Zukin, ).…”

Genetic screening and evaluation for chromosomal abnormalities of infertile males in Jilin Province, China

“…Various numerical and structural chromosome abnormalities were identified in 19.48% of infertile Tunisian men with poor semen quality (Ghorbel et al, 2012) and chromosome analysis revealed major chromosome abnormalities in 10.2% of infertile men in the Indian population (Kate et al, 2014). Karyotype abnormalities were identified in 7.2% of infertile males in Turkey (Cavkaytar et al, 2012) and the total prevalence of chromosomal abnormalities was found to be 4.3% (5/115) in Isparta (South of Turkey) (Kosar et al, 2010).…”

“…The rate of chromosomal abnormality in infertile men is 2.1-19.48% (Yatsenko et al, 2010;Fu et al, 2012;Ghorbel et al, 2012;Quan et al, 2013;Ananthapur et al, 2014;Kate et al, 2014). Chromosomal defects may decrease male fertility and increase the history of female adverse fertility outcomes, e.g., recurrent spontaneous abortion or stillbirth.…”

Clinical aspects of 49 infertile males with 45,X/46, XY mosaicism karyotype: A case series

“…45,X/46,XY mosaicism were only found in one azoospermic patient. There was no available history of mentioned patient (Kate, Pokale, Jadhav, & Gangane, ).…”