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Scientific Statement on the Diagnostic Criteria, Epidemiology, Pathophysiology, and Molecular Genetics of Polycystic Ovary Syndrome
Open accessAbstract
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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“The correlation between DHEAS levels and IR in women with PCOS seems logical, as these levels decrease with medication that enhances insulin sensitivity [62].”
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“Although the causes of PCOS have not yet been fully defined, insulin resistance (IR) has been indicated as a key etiological component (6).”
From Effect of Diet on Insulin Resistance in Polycystic Ovary Syndrome (2020) · cites this paper as [6]
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“In contrast to total T, free T seems to be a better marker to determine hyperandrogenemia in women with PCOS [187], provided that accurate and high quality methodology is used for measured or calculated free T [193, 194].”
From Role of sex hormone-binding globulin in the free hormone hypothesis and the relevance of free testosterone in androgen physiology (2022) · cites this paper as [194]
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Sestrin2 and Beclin1 levels in Polycystic Ovary Syndrome
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Analyzing the Impact of FSHR Variants on Polycystic Ovary Syndrome—a Case-Control Study in Punjab
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Self-citationElevated Serum Mannose Levels as a Marker of Polycystic Ovary Syndrome
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Metadata
- 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)
- 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
- 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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