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POLYCYSTIC OVARY SYNDROME, SUSCEPTIBILITY TO

MedGen UID:
343121
•Concept ID:
C1854448
•
Finding
OMIM®: 605286

Professional guidelines

PubMed

Fine mapping of genetic susceptibility to polycystic ovary syndrome on chromosome 19p13.2 and tests for regulatory activity.
Stewart DR, Dombroski BA, Urbanek M, Ankener W, Ewens KG, Wood JR, Legro RS, Strauss JF 3rd, Dunaif A, Spielman RS
J Clin Endocrinol Metab 2006 Oct;91(10):4112-7. Epub 2006 Jul 25 doi: 10.1210/jc.2006-0951. PMID: 16868051

Recent clinical studies

Etiology

Epigenetic/circadian clocks and PCOS.
Vatier C, Christin-Maitre S
Hum Reprod 2024 Jun 3;39(6):1167-1175. doi: 10.1093/humrep/deae066. PMID: 38600622
Causes and Consequences of Polycystic Ovary Syndrome: Insights From Mendelian Randomization.
Zhu T, Goodarzi MO
J Clin Endocrinol Metab 2022 Feb 17;107(3):e899-e911. doi: 10.1210/clinem/dgab757. PMID: 34669940Free PMC Article
Polycystic ovary syndrome is transmitted via a transgenerational epigenetic process.
Mimouni NEH, Paiva I, Barbotin AL, Timzoura FE, Plassard D, Le Gras S, Ternier G, Pigny P, Catteau-Jonard S, Simon V, Prevot V, Boutillier AL, Giacobini P
Cell Metab 2021 Mar 2;33(3):513-530.e8. Epub 2021 Feb 3 doi: 10.1016/j.cmet.2021.01.004. PMID: 33539777Free PMC Article
Polycystic Ovary Syndrome.
Azziz R
Obstet Gynecol 2018 Aug;132(2):321-336. doi: 10.1097/AOG.0000000000002698. PMID: 29995717
Insulin resistance and the polycystic ovary syndrome revisited: an update on mechanisms and implications.
Diamanti-Kandarakis E, Dunaif A
Endocr Rev 2012 Dec;33(6):981-1030. Epub 2012 Oct 12 doi: 10.1210/er.2011-1034. PMID: 23065822Free PMC Article

Diagnosis

Polycystic ovary syndrome.
Joham AE, Norman RJ, Stener-Victorin E, Legro RS, Franks S, Moran LJ, Boyle J, Teede HJ
Lancet Diabetes Endocrinol 2022 Sep;10(9):668-680. Epub 2022 Aug 4 doi: 10.1016/S2213-8587(22)00163-2. PMID: 35934017
Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification.
Dapas M, Dunaif A
Endocr Rev 2022 Nov 25;43(6):927-965. doi: 10.1210/endrev/bnac001. PMID: 35026001Free PMC Article
Polycystic ovary syndrome is transmitted via a transgenerational epigenetic process.
Mimouni NEH, Paiva I, Barbotin AL, Timzoura FE, Plassard D, Le Gras S, Ternier G, Pigny P, Catteau-Jonard S, Simon V, Prevot V, Boutillier AL, Giacobini P
Cell Metab 2021 Mar 2;33(3):513-530.e8. Epub 2021 Feb 3 doi: 10.1016/j.cmet.2021.01.004. PMID: 33539777Free PMC Article
Gestational Diabetes Mellitus: A Harbinger of the Vicious Cycle of Diabetes.
Alejandro EU, Mamerto TP, Chung G, Villavieja A, Gaus NL, Morgan E, Pineda-Cortel MRB
Int J Mol Sci 2020 Jul 15;21(14) doi: 10.3390/ijms21145003. PMID: 32679915Free PMC Article
Polycystic Ovary Syndrome.
Azziz R
Obstet Gynecol 2018 Aug;132(2):321-336. doi: 10.1097/AOG.0000000000002698. PMID: 29995717

Therapy

Obesity and risk of female reproductive conditions: A Mendelian randomisation study.
Venkatesh SS, Ferreira T, Benonisdottir S, Rahmioglu N, Becker CM, Granne I, Zondervan KT, Holmes MV, Lindgren CM, Wittemans LBL
PLoS Med 2022 Feb;19(2):e1003679. Epub 2022 Feb 1 doi: 10.1371/journal.pmed.1003679. PMID: 35104295Free PMC Article
Causes and Consequences of Polycystic Ovary Syndrome: Insights From Mendelian Randomization.
Zhu T, Goodarzi MO
J Clin Endocrinol Metab 2022 Feb 17;107(3):e899-e911. doi: 10.1210/clinem/dgab757. PMID: 34669940Free PMC Article
Polycystic ovary syndrome is transmitted via a transgenerational epigenetic process.
Mimouni NEH, Paiva I, Barbotin AL, Timzoura FE, Plassard D, Le Gras S, Ternier G, Pigny P, Catteau-Jonard S, Simon V, Prevot V, Boutillier AL, Giacobini P
Cell Metab 2021 Mar 2;33(3):513-530.e8. Epub 2021 Feb 3 doi: 10.1016/j.cmet.2021.01.004. PMID: 33539777Free PMC Article
Insulin and the polycystic ovary syndrome.
Macut D, Bjekić-Macut J, Rahelić D, Doknić M
Diabetes Res Clin Pract 2017 Aug;130:163-170. Epub 2017 Jun 12 doi: 10.1016/j.diabres.2017.06.011. PMID: 28646699
Obesity and female infertility: potential mediators of obesity's impact.
Broughton DE, Moley KH
Fertil Steril 2017 Apr;107(4):840-847. Epub 2017 Mar 11 doi: 10.1016/j.fertnstert.2017.01.017. PMID: 28292619

Prognosis

Causal association of immune cells and polycystic ovarian syndrome: a Mendelian randomization study.
Aru N, Yang C, Chen Y, Liu J
Front Endocrinol (Lausanne) 2023;14:1326344. Epub 2023 Dec 22 doi: 10.3389/fendo.2023.1326344. PMID: 38189053Free PMC Article
Obesity and risk of female reproductive conditions: A Mendelian randomisation study.
Venkatesh SS, Ferreira T, Benonisdottir S, Rahmioglu N, Becker CM, Granne I, Zondervan KT, Holmes MV, Lindgren CM, Wittemans LBL
PLoS Med 2022 Feb;19(2):e1003679. Epub 2022 Feb 1 doi: 10.1371/journal.pmed.1003679. PMID: 35104295Free PMC Article
Nutritional guidelines for the management of insulin resistance.
Muscogiuri G, Barrea L, Caprio M, Ceriani F, Chavez AO, El Ghoch M, Frias-Toral E, Mehta RJ, Mendez V, Paschou SA, Pazderska A, Savastano S, Colao A
Crit Rev Food Sci Nutr 2022;62(25):6947-6960. Epub 2021 Apr 2 doi: 10.1080/10408398.2021.1908223. PMID: 33797999
Distinct subtypes of polycystic ovary syndrome with novel genetic associations: An unsupervised, phenotypic clustering analysis.
Dapas M, Lin FTJ, Nadkarni GN, Sisk R, Legro RS, Urbanek M, Hayes MG, Dunaif A
PLoS Med 2020 Jun;17(6):e1003132. Epub 2020 Jun 23 doi: 10.1371/journal.pmed.1003132. PMID: 32574161Free PMC Article
Prenatal androgen exposure and transgenerational susceptibility to polycystic ovary syndrome.
Risal S, Pei Y, Lu H, Manti M, Fornes R, Pui HP, Zhao Z, Massart J, Ohlsson C, Lindgren E, Crisosto N, Maliqueo M, Echiburú B, Ladrón de Guevara A, Sir-Petermann T, Larsson H, Rosenqvist MA, Cesta CE, Benrick A, Deng Q, Stener-Victorin E
Nat Med 2019 Dec;25(12):1894-1904. Epub 2019 Dec 2 doi: 10.1038/s41591-019-0666-1. PMID: 31792459

Clinical prediction guides

Epigenetic/circadian clocks and PCOS.
Vatier C, Christin-Maitre S
Hum Reprod 2024 Jun 3;39(6):1167-1175. doi: 10.1093/humrep/deae066. PMID: 38600622
Obesity and risk of female reproductive conditions: A Mendelian randomisation study.
Venkatesh SS, Ferreira T, Benonisdottir S, Rahmioglu N, Becker CM, Granne I, Zondervan KT, Holmes MV, Lindgren CM, Wittemans LBL
PLoS Med 2022 Feb;19(2):e1003679. Epub 2022 Feb 1 doi: 10.1371/journal.pmed.1003679. PMID: 35104295Free PMC Article
Causes and Consequences of Polycystic Ovary Syndrome: Insights From Mendelian Randomization.
Zhu T, Goodarzi MO
J Clin Endocrinol Metab 2022 Feb 17;107(3):e899-e911. doi: 10.1210/clinem/dgab757. PMID: 34669940Free PMC Article
Nutritional guidelines for the management of insulin resistance.
Muscogiuri G, Barrea L, Caprio M, Ceriani F, Chavez AO, El Ghoch M, Frias-Toral E, Mehta RJ, Mendez V, Paschou SA, Pazderska A, Savastano S, Colao A
Crit Rev Food Sci Nutr 2022;62(25):6947-6960. Epub 2021 Apr 2 doi: 10.1080/10408398.2021.1908223. PMID: 33797999
Prenatal androgen exposure and transgenerational susceptibility to polycystic ovary syndrome.
Risal S, Pei Y, Lu H, Manti M, Fornes R, Pui HP, Zhao Z, Massart J, Ohlsson C, Lindgren E, Crisosto N, Maliqueo M, Echiburú B, Ladrón de Guevara A, Sir-Petermann T, Larsson H, Rosenqvist MA, Cesta CE, Benrick A, Deng Q, Stener-Victorin E
Nat Med 2019 Dec;25(12):1894-1904. Epub 2019 Dec 2 doi: 10.1038/s41591-019-0666-1. PMID: 31792459

Recent systematic reviews

Genetic variants of metabolism and inflammatory pathways, and PCOS risk -Systematic review, meta-analysis, and in-silico analysis.
Sharma P, Bhatia K, Singh Kapoor H, Kaur B, Khetarpal P
Gene 2023 Dec 20;888:147796. Epub 2023 Sep 13 doi: 10.1016/j.gene.2023.147796. PMID: 37714276
CYP17A1 (rs74357) polymorphism and polycystic ovary syndrome risk: a systemic review and meta-analysis.
Rezgoun ML, El Khour D, Bendaoud H, Chellat D
Acta Biomed 2023 Aug 3;94(4):e2023167. doi: 10.23750/abm.v94i4.14229. PMID: 37539608Free PMC Article
Hidradenitis suppurativa and polycystic ovarian syndrome: Systematic review and meta-analysis.
Phan K, Charlton O, Smith SD
Australas J Dermatol 2020 Feb;61(1):e28-e33. Epub 2019 Jul 1 doi: 10.1111/ajd.13110. PMID: 31261440
Systematic review: association of polycystic ovary syndrome with metabolic syndrome and non-alcoholic fatty liver disease.
Baranova A, Tran TP, Birerdinc A, Younossi ZM
Aliment Pharmacol Ther 2011 Apr;33(7):801-14. Epub 2011 Jan 20 doi: 10.1111/j.1365-2036.2011.04579.x. PMID: 21251033
Polycystic ovary syndrome and the risk of gynaecological cancer: a systematic review.
Chittenden BG, Fullerton G, Maheshwari A, Bhattacharya S
Reprod Biomed Online 2009 Sep;19(3):398-405. doi: 10.1016/s1472-6483(10)60175-7. PMID: 19778486

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