Polycystic ovary syndrome (PCOS) is the leading cause of amenorrhea and anovulatory infertility in women of reproductive age. Both gene polymorphisms and tissue-specific epigenetic alterations, which determine gene transcription and translation dynamics in disease-states, strongly influence PCOS development. Particularly, promoter-proximal DNA methylation and microRNA expression changes show strong associations with follicular defects, suggesting post-transcriptional dysregulation of localized gene networks.
View Article and Find Full Text PDFAzoospermia is characterized by the absence of sperm in the ejaculate and is categorized into obstructive azoospermia (OA) and nonobstructive azoospermia (NOA). For men with NOA, testicular sperm extraction (TESE) is the only method to obtain sperm for assisted reproductive technology (ART). Given the rarity of these sperm and the unpredictable success of subsequent retrieval attempts, cryopreservation of microdissection-TESE-obtained sperm is essential.
View Article and Find Full Text PDFPurpose: To evaluate the association of single-nucleotide polymorphisms (SNPs) in the anti-Müllerian hormone (AMH) and AMH type II receptor (AMHR2) genes with ovarian response and clinical pregnancy outcomes in women undergoing controlled ovarian hyperstimulation.
Methods: In this prospective study, we genotyped AMH polymorphisms (c. -649 T > C, c.
Peripheral and tissue-specific alterations in global DNA methylation (5-methylcytosine (5mC)) and DNA hydroxymethylation (5-hydroxymethylcytosine (5hmC)) profiles have been identified as both biomarkers for disease prediction and as hallmarks of dysregulated localized gene networks. Global and gene-specific epigenetic alterations in the 5mC profiles have shown widespread implications in the etiology of polycystic ovary syndrome (PCOS). However, there has been no study in PCOS that integrates the quantification of 5mC and 5hmC signatures alongside the expression levels of DNA methylating and demethylating enzymes as respective indicators of methylation and demethylation pathways.
View Article and Find Full Text PDFStudy Question: What are the good practice guidelines for Pre implantation genetic testing applicable in INDIA?
What Is Already Known: Pre-Implantation Genetic Testing (PGT) is not new in India. It is used to identify euploid embryos for transfer, thus enabling couples to achieve a healthy pregnancy. There has been a lot of controversy surrounding PGT in the international forums; most of these debates have failed to reach a consensus on whether PGT should be offered or its concerns be validated more.