Cited by 301Ovarian function and disordersGenetic and Kidney Cyst DiseasesSexual Differentiation and Disorders

Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification

Open access
Dapas, Matthew, Dunaif, Andrea·2022·Endocrine Reviews

Abstract

Polycystic ovary syndrome (PCOS) is among the most common disorders in women of reproductive age, affecting up to 15% worldwide, depending on the diagnostic criteria. PCOS is characterized by a constellation of interrelated reproductive abnormalities, including disordered gonadotropin secretion, increased androgen production, chronic anovulation, and polycystic ovarian morphology. It is frequently associated with insulin resistance and obesity. These reproductive and metabolic derangements cause major morbidities across the lifespan, including anovulatory infertility and type 2 diabetes (T2D). Despite decades of investigative effort, the etiology of PCOS remains unknown. Familial clustering of PCOS cases has indicated a genetic contribution to PCOS. There are rare Mendelian forms of PCOS associated with extreme phenotypes, but PCOS typically follows a non-Mendelian pattern of inheritance consistent with a complex genetic architecture, analogous to T2D and obesity, that reflects the interaction of susceptibility genes and environmental factors. Genomic studies of PCOS have provided important insights into disease pathways and have indicated that current diagnostic criteria do not capture underlying differences in biology associated with different forms of PCOS. We provide a state-of-the-science review of genetic analyses of PCOS, including an overview of genomic methodologies aimed at a general audience of non-geneticists and clinicians. Applications in PCOS will be discussed, including strengths and limitations of each study. The contributions of environmental factors, including developmental origins, will be reviewed. Insights into the pathogenesis and genetic architecture of PCOS will be summarized. Future directions for PCOS genetic studies will be outlined.

Integrity signals

Registry

Crossref · 10.1210/endrev/bnac001

Cites

561 of 561 references verified0 citation errors · 0 not checkable

Statistics

Recomputing p-values needs the paper’s full text.

Claims the paper makes

We couldn’t retrieve this paper’s full text, so its claims and self-check weren’t run. The registry and citation checks still apply.

Claims other papers make about this one

Each is checked against this paper’s own text: does it say what the citing paper says it does?

Cites

Flagged first, then by citations

3 of the 564 references couldn’t be matched to a known paper.

Cited by

Sorted by citations

Authors
Dapas, M., & Dunaif, A.
Affiliations
  • University of Chicago (US)
  • Icahn School of Medicine at Mount Sinai (US)
Venue
Endocrine Reviews
Published
2022-01-13
Volume
43
Issue
6
Pages
927-965
ISSN
  • 0163-769X (ISSN-L)
  • 1945-7189
OpenAlex
W4206803663
Cited by
300
References
564
Citations by year
2026: 58 · 2025: 84 · 2024: 88 · 2023: 55 · 2022: 15
FWCI
51.19
Type
journal article
Language
en
Open access
Locations
  • Endocrine Reviews (publishedVersion)
  • PubMed Central (publishedVersion)
  • PubMed (publishedVersion)
Funders
National Institutes of Health (P50 HD044405, R01 HD085227, R01 HD100812, 5TL1TR002388)
Topics
  • Health Sciences › Medicine › Reproductive Medicine › Ovarian function and disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Kidney Cyst Diseases
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Sexual Differentiation and Disorders
Keywords
polycystic ovary syndrome, PCOS classification, PCOS diagnostic criteria, insulin resistance, obesity, type 2 diabetes, anovulatory infertility, androgen production, gonadotropin secretion, developmental origins, environmental factors, susceptibility genes, PCOS pathogenesis
MeSH terms
Diabetes Mellitus, Type 2, Female, Humans, Obesity, Polycystic Ovary Syndrome, Hyperandrogenism, Genomics

About these checks

Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.

Statistics and arithmetic are recomputed, not judged.

Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.

What counts as a claim ›How we measure confidence ›How we check this ›

Are you an author, or do you see a problem with this page? Request a review