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Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology

Polycystic ovary syndrome is a multifactorial endocrine disorder whose pathophysiology baffles many researchers till today. This syndrome is typically characterized by anovulatory cycles and infertility, altered gonadotropin levels, obesity, and bulky multifollicular ovaries on ultrasound. Hyperandr...

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Autores principales: Dadachanji, Roshan, Shaikh, Nuzhat, Mukherjee, Srabani
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5835258/
https://www.ncbi.nlm.nih.gov/pubmed/29670770
http://dx.doi.org/10.1155/2018/7624932
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author Dadachanji, Roshan
Shaikh, Nuzhat
Mukherjee, Srabani
author_facet Dadachanji, Roshan
Shaikh, Nuzhat
Mukherjee, Srabani
author_sort Dadachanji, Roshan
collection PubMed
description Polycystic ovary syndrome is a multifactorial endocrine disorder whose pathophysiology baffles many researchers till today. This syndrome is typically characterized by anovulatory cycles and infertility, altered gonadotropin levels, obesity, and bulky multifollicular ovaries on ultrasound. Hyperandrogenism and insulin resistance are hallmark features of its complex pathophysiology. Hyperandrogenemia is a salient feature of PCOS and a major contributor to cosmetic anomalies including hirsutism, acne, and male pattern alopecia in affected women. Increased androgen levels may be intrinsic or aggravated by preexisting insulin resistance in women with PCOS. Studies have reported augmented ovarian steroidogenesis patterns attributed mainly to theca cell hypertrophy and altered expression of key enzymes in the steroidogenic pathway. Candidate gene studies have been performed in order to delineate the association of polymorphisms in genes, which encode enzymes in the intricate cascade of steroidogenesis or modulate the levels and action of circulating androgens, with risk of PCOS development and its related traits. However, inconsistent findings have impacted the emergence of a unanimously accepted genetic marker for PCOS susceptibility. In the current review, we have summarized the influence of polymorphisms in important androgen related genes in governing genetic predisposition to PCOS and its related metabolic and reproductive traits.
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spelling pubmed-58352582018-04-18 Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology Dadachanji, Roshan Shaikh, Nuzhat Mukherjee, Srabani Genet Res Int Review Article Polycystic ovary syndrome is a multifactorial endocrine disorder whose pathophysiology baffles many researchers till today. This syndrome is typically characterized by anovulatory cycles and infertility, altered gonadotropin levels, obesity, and bulky multifollicular ovaries on ultrasound. Hyperandrogenism and insulin resistance are hallmark features of its complex pathophysiology. Hyperandrogenemia is a salient feature of PCOS and a major contributor to cosmetic anomalies including hirsutism, acne, and male pattern alopecia in affected women. Increased androgen levels may be intrinsic or aggravated by preexisting insulin resistance in women with PCOS. Studies have reported augmented ovarian steroidogenesis patterns attributed mainly to theca cell hypertrophy and altered expression of key enzymes in the steroidogenic pathway. Candidate gene studies have been performed in order to delineate the association of polymorphisms in genes, which encode enzymes in the intricate cascade of steroidogenesis or modulate the levels and action of circulating androgens, with risk of PCOS development and its related traits. However, inconsistent findings have impacted the emergence of a unanimously accepted genetic marker for PCOS susceptibility. In the current review, we have summarized the influence of polymorphisms in important androgen related genes in governing genetic predisposition to PCOS and its related metabolic and reproductive traits. Hindawi 2018-02-18 /pmc/articles/PMC5835258/ /pubmed/29670770 http://dx.doi.org/10.1155/2018/7624932 Text en Copyright © 2018 Roshan Dadachanji et al. https://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Review Article
Dadachanji, Roshan
Shaikh, Nuzhat
Mukherjee, Srabani
Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
title Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
title_full Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
title_fullStr Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
title_full_unstemmed Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
title_short Genetic Variants Associated with Hyperandrogenemia in PCOS Pathophysiology
title_sort genetic variants associated with hyperandrogenemia in pcos pathophysiology
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5835258/
https://www.ncbi.nlm.nih.gov/pubmed/29670770
http://dx.doi.org/10.1155/2018/7624932
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