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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...
Autores principales: | , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2018
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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. |
format | Online Article Text |
id | pubmed-5835258 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2018 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
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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