Cytogenetic abnormalities in 200 male infertile cases in the southern region of India

Sreenivasa, G; Malini, Suttur S.; Kumari, Preeti; Dutta, Usha R.

doi:10.4236/ojgen.2013.32a3005

Cited by 6 publications

(3 citation statements)

References 26 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Interestingly, present study reveals high frequency (7%) of mosaicism with 46XY/47, XYY karyotype, whereas, in South Indian population shown very low frequency i.e. 0.5% (Sreenivasa et al, 2013). The reason in the changes in the frequency of mosaicism in two different populations are may be either due to different profession like farmers using chemical fertilizers / pesticides or truck drivers who are expose to automobile fumes that may lead to nondisjunction event during meiosis or may be due to unidentified environmental factors.…”

Section: Discussioncontrasting

confidence: 51%

Research Article Microdeletion of the AZFc locus with high frequency of mosaicism 46,XY/47XYY in cases of non obstructive azoospermia in eastern population of India

Saxena¹,

Aniket²

2019

Genet. Mol. Res.

View full text Add to dashboard Cite

The etiopathology of male infertility is highly complex, involving gene-environment interactions to regulate spermatogenesis. Consequently, genetic analysis becomes imperative for cases of non-obstructive azoospermia (NOA) to identify the causative factors. Cases (n = 111) of NOA referred to the cytogenetics and molecular genetics laboratory of the All India Institute of Medical Sciences in-Patna from 2013-2018 were subjected to 1) karyotyping using GTG bandings techniques, 2) fluorescence in situ hybridization (FISH) for the sex determining region (SRY), and 3) PCR based analysis of STS markers based on microdeletion of the Y-chromosome after isolation of genomic DNA from whole blood. A flow cytometer was used for a cell-kinetic and DNA methylation study after incorporation of 5-azacytidine (5-AzaC) (1.0 ug/mL) in lymphocyte culture. PCR products were analyzed on an agarose gel (1.5%) and bands were visualized on Gel Doc after ethidium bromide staining. Chromosomal abnormalities, including structural numerical variations, were observed in 14 of the karyotypes. Eight cases showed a 46,XY/47,XYY i.e. mosaic pattern; two cases 46, XY/45/XO; a single case with 47,XY +16; two cases with 46,X+ ring Y; a single case with 46,XY+dicentric in ©FUNPEC-RP www.funpecrp.com.br Genetics and Molecular Research 18 (2): gmr18349 A.K. Saxena 2 chromosome-7; and two cases showed a normal 46,XY karyotypic pattern. Cellular proliferation increased after incorporation of 5-azaC (1.0 µg/mL) for 24 h in lymphocyte culture at the S-phase of the cell cycle. Out of 14 cases analyzed with FISH, three cases showed loss of the SRY region, amongst which two cases were SRY negative (ve) with a normal 46, XY karyotype. Serum follicle stimulating hormone values were higher (21 U/L) in cases of mosaicism as compared to normal individuals. The frequency of microdeletion deletion of the AZFc region varied in different cases; one case of infertility showing deletion of the Sy 267 STS marker (102bp); loss of a 350bp band (Sy 254) was found in all the cases of infertility. These genetic variations are responsible for dysregulation of spermatogenesis leading to infertility in males. Genetic counselling would be relevant in such cases, before beginning assisted reproductive techniques such as in vitro fertilization.

show abstract

Section: Discussioncontrasting

confidence: 51%

Research Article Microdeletion of the AZFc locus with high frequency of mosaicism 46,XY/47XYY in cases of non obstructive azoospermia in eastern population of India

Saxena¹,

Aniket²

2019

Genet. Mol. Res.

View full text Add to dashboard Cite

show abstract

“…We also decided to explore the correlation between somatic chromosomal abnormalities and hormonal profile of these patients and control individuals. Although similar studies are there in the literature from India,[ 7 8 9 10 ] this is the first study of its kind that has compared the cytogenetic and endocrine profile of infertile males with healthy fertile male controls.…”

Section: Introductionmentioning

confidence: 78%

The Spectrum of Chromosomal Abnormalities and Endocrine Profile of Male Infertility with Nonobstructive Semen Abnormality

Singhal

Pendkur

R.S.Parihar

et al. 2021

Journal of Human Reproductive Sciences

View full text Add to dashboard Cite

Background: Primary infertility is a common occurrence which affects approximately 15% of couples who desire to begin their family. Chromosomal abnormalities are well-established causes of pregnancy loss but may also have a role in explaining the cause of male infertility, especially with nonobstructive semen abnormalities. Hence, awareness regarding safety of artificial reproductive technology in these individuals due to underlying sperm aneuploidy is required. Aims: The aims of the study are to determine the prevalence of chromosomal abnormalities in primary infertile males with nonobstructive semen abnormalities and correlate with their endocrine profile. Study Design: A case–control study, in which 100 males with primary infertility and non-obstructive semen abnormalities were evaluated for chromosomal abnormality and hormonal profile; and were compared with 50 healthy males with normal semen analysis and at least one biological child. Materials and Methods: Blood T-lymphocytes were cultured using RPMI-1640 medium for obtaining metaphases and chromosomal analysis. Statistical Analysis: SPSS software and Student's t -test were used. A p < 0.05 was considered statistically significant. Results: Azoospermia (81%) was the most common nonobstructive semen abnormality. Overall prevalence of major chromosomal abnormalities and polymorphic variants was 16% and 7%, respectively. Klinefelter syndrome was the most common sex chromosomal numerical abnormality seen in 6.17% of cases with azoospermia. All healthy control males had 46, XY karyotype. Higher levels of follicle-stimulating hormone and luteinizing hormone and lower levels of testosterone along with testicular volumes were observed in infertile males with abnormal karyotype (p < 0.05). Conclusion: Primary infertile males with nonobstructive semen abnormality have high frequency of chromosomal aberrations, which justify the requirement of cytogenetic testing in these patients.

show abstract

“…This study is supported by Van Assche et al, in their study; they recognized chromosomally consequential sterility has long been recognized (Van Assche et al, 1996). In another study done by Sreenivasa et al, in 2013 revealed that out of 15 infertile cases 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.…”

Section: Resultsmentioning

confidence: 99%

Genetic and Anthropometrical Evidences in Infertile Male

Chander¹,

Manohar²,

Ganesh³

2017

Int.J.Curr.Microbiol.App.Sci

View full text Add to dashboard Cite

Cytogenetic abnormalities in 200 male infertile cases in the southern region of India

Cited by 6 publications

References 26 publications

Research Article Microdeletion of the AZFc locus with high frequency of mosaicism 46,XY/47XYY in cases of non obstructive azoospermia in eastern population of India

Research Article Microdeletion of the AZFc locus with high frequency of mosaicism 46,XY/47XYY in cases of non obstructive azoospermia in eastern population of India

The Spectrum of Chromosomal Abnormalities and Endocrine Profile of Male Infertility with Nonobstructive Semen Abnormality

Genetic and Anthropometrical Evidences in Infertile Male

Contact Info

Product

Resources

About