Cited by 1,020Ovarian function and disordersGenetic and Kidney Cyst DiseasesReproductive Biology and Fertility

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Scientific Statement on the Diagnostic Criteria, Epidemiology, Pathophysiology, and Molecular Genetics of Polycystic Ovary Syndrome

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Dumesic, Daniel A., Oberfield, Sharon E., Stener-Victorin, Elisabet, Marshall, John C., Laven, Joop S., Legro, Richard S.·2015·Endocrine Reviews

DOI 10.1210/er.2015-1018PMC PMC4591526

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Abstract

Polycystic ovary syndrome (PCOS) is a heterogeneous and complex disorder that has both adverse reproductive and metabolic implications for affected women. However, there is generally poor understanding of its etiology. Varying expert-based diagnostic criteria utilize some combination of oligo-ovulation, hyperandrogenism, and the presence of polycystic ovaries. Criteria that require hyperandrogenism tend to identify a more severe reproductive and metabolic phenotype. The phenotype can vary by race and ethnicity, is difficult to define in the perimenarchal and perimenopausal period, and is exacerbated by obesity. The pathophysiology involves abnormal gonadotropin secretion from a reduced hypothalamic feedback response to circulating sex steroids, altered ovarian morphology and functional changes, and disordered insulin action in a variety of target tissues. PCOS clusters in families and both female and male relatives can show stigmata of the syndrome, including metabolic abnormalities. Genome-wide association studies have identified a number of candidate regions, although their role in contributing to PCOS is still largely unknown.

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Authors: Dumesic, D. A., Oberfield, S. E., Stener-Victorin, E., Marshall, J. C., Laven, J. S., & Legro, R. S.
Affiliations: University of California, Los Angeles (US)
Morgan Stanley Children's Hospital (US)
Department of Physiology (E.S.-V.), Karolinska Institutet, 171 77 Stockholm, Sweden;
University of Virginia Health System (US)
Erasmus MC (NL)
Pennsylvania State University (US)
ORCID: Dumesic, Daniel A.
Oberfield, Sharon E.
Marshall, John C.
Laven, Joop S.
Legro, Richard S.
Venue: Endocrine Reviews
Publisher: The Endocrine Society
Published: 2015-10-01
Volume: 36
Issue: 5
Pages: 487-525
ISSN: 0163-769X (ISSN-L)
1945-7189
DOI: 10.1210/er.2015-1018
PMC: PMC4591526
OpenAlex: W2113329249
Cited by: 1,020
References: 472
Citations by year: 2026: 89 · 2025: 108 · 2024: 129 · 2023: 126 · 2022: 131 · 2021: 124 · 2020: 91 · 2019: 80 · 2018: 58 · 2017: 51 · 2016: 28 · 2015: 2
FWCI: 7.03
Type: journal article
Language: en
Open access: bronze
doi.org
Locations: Endocrine Reviews (publishedVersion)
Europe PMC (PubMed Central) (publishedVersion)
PubMed Central (publishedVersion)
PubMed (publishedVersion)
EUR Research Repository (Erasmus University Rotterdam) (publishedVersion)
EUR Research Repository (Erasmus University Rotterdam) (submittedVersion)
RePub (Erasmus University Rotterdam) (submittedVersion, other-oa)
Funders: University of Pennsylvania
Pennsylvania State University
Novo Nordisk Fonden (NNF15OC0015902)
National Institutes of Health (28934, U54-HD28-934)
Eunice Kennedy Shriver National Institute of Child Health and Human Development (P50HD071836, U54HD028934, U54HD034449, U10HD038992, P50HD028934, 2 U10 HD 38992, R01HD056510, U54-HD-28934)
Topics: Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
Health Sciences › Medicine › Reproductive Medicine › Reproductive Biology and Fertility
Keywords: polycystic ovary syndrome, diagnostic criteria, epidemiology, pathophysiology, molecular genetics, hyperandrogenism, oligoovulation, insulin resistance, gonadotropin secretion, hypothalamic-pituitary feedback, obesity, reproductive phenotypes, metabolic phenotypes, familial aggregation, genome-wide association study, sex steroids
MeSH terms: Diagnosis, Differential, Female, Humans, Polycystic Ovary Syndrome

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