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Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach
Polycystic ovarian syndrome (PCOS) is a complex endocrine disorder affecting females in their reproductive age. The early diagnosis of PCOS is complicated and complex due to overlapping symptoms of this disease. The most accepted diagnostic approach today is the Rotterdam Consensus (2003), which sup...
Autores principales: | , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8945152/ https://www.ncbi.nlm.nih.gov/pubmed/35327342 http://dx.doi.org/10.3390/biomedicines10030540 |
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author | Nautiyal, Himani Imam, Syed Sarim Alshehri, Sultan Ghoneim, Mohammed M. Afzal, Muhammad Alzarea, Sami I. Güven, Emine Al-Abbasi, Fahad A. Kazmi, Imran |
author_facet | Nautiyal, Himani Imam, Syed Sarim Alshehri, Sultan Ghoneim, Mohammed M. Afzal, Muhammad Alzarea, Sami I. Güven, Emine Al-Abbasi, Fahad A. Kazmi, Imran |
author_sort | Nautiyal, Himani |
collection | PubMed |
description | Polycystic ovarian syndrome (PCOS) is a complex endocrine disorder affecting females in their reproductive age. The early diagnosis of PCOS is complicated and complex due to overlapping symptoms of this disease. The most accepted diagnostic approach today is the Rotterdam Consensus (2003), which supports the positive diagnosis of PCOS when patients present two out of the following three symptoms: biochemical and clinical signs of hyperandrogenism, oligo, and anovulation, also polycystic ovarian morphology on sonography. Genetic variance, epigenetic changes, and disturbed lifestyle lead to the development of pathophysiological disturbances, which include hyperandrogenism, insulin resistance, and chronic inflammation in PCOS females. At the molecular level, different proteins and molecular and signaling pathways are involved in disease progression, which leads to the failure of a single genetic diagnostic approach. The genetic approach to elucidate the mechanism of pathogenesis of PCOS was recently developed, whereby four phenotypic variances of PCOS categorize PCOS patients into classic, ovulatory, and non-hyperandrogenic types. Genetic studies help to identify the root cause for the development of this PCOS. PCOS genetic inheritance is autosomal dominant but the latest investigations revealed it as a multigene origin disease. Different genetic loci and specific genes have been identified so far as being associated with this disease. Genome-wide association studies (GWAS) and related genetic studies have changed the scenario for the diagnosis and treatment of this reproductive and metabolic condition known as PCOS. This review article briefly discusses different genes associated directly or indirectly with disease development and progression. |
format | Online Article Text |
id | pubmed-8945152 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-89451522022-03-25 Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach Nautiyal, Himani Imam, Syed Sarim Alshehri, Sultan Ghoneim, Mohammed M. Afzal, Muhammad Alzarea, Sami I. Güven, Emine Al-Abbasi, Fahad A. Kazmi, Imran Biomedicines Review Polycystic ovarian syndrome (PCOS) is a complex endocrine disorder affecting females in their reproductive age. The early diagnosis of PCOS is complicated and complex due to overlapping symptoms of this disease. The most accepted diagnostic approach today is the Rotterdam Consensus (2003), which supports the positive diagnosis of PCOS when patients present two out of the following three symptoms: biochemical and clinical signs of hyperandrogenism, oligo, and anovulation, also polycystic ovarian morphology on sonography. Genetic variance, epigenetic changes, and disturbed lifestyle lead to the development of pathophysiological disturbances, which include hyperandrogenism, insulin resistance, and chronic inflammation in PCOS females. At the molecular level, different proteins and molecular and signaling pathways are involved in disease progression, which leads to the failure of a single genetic diagnostic approach. The genetic approach to elucidate the mechanism of pathogenesis of PCOS was recently developed, whereby four phenotypic variances of PCOS categorize PCOS patients into classic, ovulatory, and non-hyperandrogenic types. Genetic studies help to identify the root cause for the development of this PCOS. PCOS genetic inheritance is autosomal dominant but the latest investigations revealed it as a multigene origin disease. Different genetic loci and specific genes have been identified so far as being associated with this disease. Genome-wide association studies (GWAS) and related genetic studies have changed the scenario for the diagnosis and treatment of this reproductive and metabolic condition known as PCOS. This review article briefly discusses different genes associated directly or indirectly with disease development and progression. MDPI 2022-02-24 /pmc/articles/PMC8945152/ /pubmed/35327342 http://dx.doi.org/10.3390/biomedicines10030540 Text en © 2022 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Review Nautiyal, Himani Imam, Syed Sarim Alshehri, Sultan Ghoneim, Mohammed M. Afzal, Muhammad Alzarea, Sami I. Güven, Emine Al-Abbasi, Fahad A. Kazmi, Imran Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach |
title | Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach |
title_full | Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach |
title_fullStr | Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach |
title_full_unstemmed | Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach |
title_short | Polycystic Ovarian Syndrome: A Complex Disease with a Genetics Approach |
title_sort | polycystic ovarian syndrome: a complex disease with a genetics approach |
topic | Review |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8945152/ https://www.ncbi.nlm.nih.gov/pubmed/35327342 http://dx.doi.org/10.3390/biomedicines10030540 |
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