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

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

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

DOI 10.1210/endrev/bnac001PMC PMC9695127

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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.

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Polycystic ovary syndrome
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See all 301

Authors: Dapas, M., & Dunaif, A.
Affiliations: University of Chicago (US)
Icahn School of Medicine at Mount Sinai (US)
ORCID: Dapas, Matthew
Dunaif, Andrea
Venue: Endocrine Reviews
Publisher: The Endocrine Society
Published: 2022-01-13
Volume: 43
Issue: 6
Pages: 927-965
ISSN: 0163-769X (ISSN-L)
1945-7189
DOI: 10.1210/endrev/bnac001
PMC: PMC9695127
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: bronze
doi.org
Licence: academic.oup.com/pages/standard-publication-reuse-rights (vor)
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
Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › 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

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

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