Genetics and Epigenetics of Polycystic Ovary Syndrome

October 2023 in “ IntechOpen eBooks ”

Surya Prakash Goud Ponnam, Alan Paul

hyperandrogenism ovulatory dysfunction polycystic ovarian morphology CYP11A1 CYP17 testosterone Sex Hormone Binding Globulin SHBG differential methylation CpG sites

Studysummary This book chapter reviews the genetic and epigenetic factors influencing PCOS, particularly in a global context and specific to India, and reports no new clinical findings.

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research Polycystic Ovary Syndrome: A Comprehensive Review of Pathogenesis, Management, and Drug Repurposing

68 citations , January 2022 in “International Journal of Molecular Sciences”

This review summarizes factors involved in polycystic ovary syndrome pathogenesis and management, highlights commonly prescribed and repurposed medications, and calls for well-designed clinical trials to evaluate these treatments further.

research Comprehensive Overview of Polycystic Ovary Syndrome

883 citations , August 2016 in “Nature Reviews Disease Primers”

This review discusses the current understanding of polycystic ovary syndrome, focusing on its epidemiology, pathophysiology, diagnosis, management, and future research directions, but reports no new clinical results.

Anti-Müllerian Hormone Gene Polymorphism Is Associated With Androgen Levels in Chinese Polycystic Ovary Syndrome Patients With Insulin Resistance

research Anti-Müllerian Hormone Gene Polymorphism Is Associated With Androgen Levels in Chinese Polycystic Ovary Syndrome Patients With Insulin Resistance

12 citations , January 2016 in “Journal of Assisted Reproduction and Genetics”

This study suggests that genetic variations in the AMH signal pathway may be linked to susceptibility and phenotype variations in PCOS among women with insulin resistance.

research Common Variants in the Sex Hormone-Binding Globulin Gene Influence SHBG Levels in Women with Polycystic Ovary Syndrome

24 citations , November 2015 in “Annals of Nutrition and Metabolism”

This study found that specific SHBG gene variants and haplotypes are associated with polycystic ovary syndrome, suggesting that SHBG may be a candidate gene for the condition.

research Polymorphism of CAG and GGN Repeats of Androgen Receptor Gene in Women with Polycystic Ovary Syndrome

9 citations , September 2015 in “Reproductive Biomedicine Online”

This study suggests that longer GGN repeat polymorphisms in the androgen receptor gene are associated with polycystic ovary syndrome in women.

research Androgen Receptor Gene Polymorphism and Polycystic Ovary Syndrome

45 citations , November 2012

This review discusses the association between androgen receptor gene polymorphism and PCOS, reporting mixed findings on whether shorter or longer CAG repeats are linked to the disorder; it provides no new results and calls for further studies.

research The Prevalence of Polycystic Ovary Syndrome in a Community Sample of Iranian Population: Iranian PCOS Prevalence Study

215 citations , January 2011 in “Reproductive Biology and Endocrinology”

Among reproductive-aged women in Iran, this study found that the prevalence of PCOS varied significantly depending on the diagnostic criteria used, with estimates ranging from 7.1% to 14.6%.

research Association of AR rs6152G/A Gene Polymorphism With Susceptibility to Polycystic Ovary Syndrome in Chinese Women

15 citations , January 2010 in “Reproduction, Fertility and Development”

This study found that Han Chinese women carrying the rs6152A allele had a significantly higher risk of developing polycystic ovary syndrome compared to those with the rs6152GG genotype.

research The Androgen Excess and PCOS Society Criteria for the Polycystic Ovary Syndrome: The Complete Task Force Report

1540 citations , October 2008 in “Fertility and Sterility”

This review discusses the definition of polycystic ovary syndrome proposed by the AE-PCOS Society Task Force, emphasizing hyperandrogenism, ovarian dysfunction, and excluding related disorders, while noting potential variations needing more research.

A Simple Screening Approach for Assessing Community Prevalence and Phenotype of Polycystic Ovary Syndrome in a Semiurban Population in Sri Lanka

research A Simple Screening Approach for Assessing Community Prevalence and Phenotype of Polycystic Ovary Syndrome in a Semiurban Population in Sri Lanka

120 citations , June 2008 in “American Journal of Epidemiology”

This study reported a 6.3% prevalence of PCOS among women in a Sri Lankan community, with most cases presenting as oligo/amenorrhea and polycystic ovaries.

research Androgen Receptor Gene CAG Repeat Polymorphism in Women with Polycystic Ovary Syndrome

44 citations , January 2008 in “Fertility and Sterility”

This study suggests that androgen receptor gene CAG repeat length may influence serum free testosterone levels in some PCOS patients, with longer repeats associated with higher testosterone concentrations.

research Revised 2003 Consensus on Diagnostic Criteria and Long-Term Health Risks Related to Polycystic Ovary Syndrome

4809 citations , January 2004 in “Fertility and Sterility”

This review discusses polycystic ovary syndrome, emphasizing its broad range of manifestations and associations with risks like type 2 diabetes and cardiovascular events, but reports no new clinical results.