The DOI matches its Crossref record; 561 of the 564 references it cites were found in a registry or an index.
Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification
Open accessAbstract
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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In the citing paper
“genetic variation appears to play an important role in the pathogenesis of PCOS [123]”
From Moving beyond Weight: A Narrative Review of the Dietary and Lifestyle Management for Reducing Cardiometabolic Risk in Polycystic Ovary Syndrome (PCOS) (2023) · cites this paper as [123]
In the citing paper
“Animal studies have shown that epigenetic changes in utero can perpetuate PCOS phenotypes across multiple generations [123]”
From Moving beyond Weight: A Narrative Review of the Dietary and Lifestyle Management for Reducing Cardiometabolic Risk in Polycystic Ovary Syndrome (PCOS) (2023) · cites this paper as [123]
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Cited by
Sorted by citations
Stener-Victorin, E., Teede, H., Norman, R. J., Legro, R., Goodarzi, M. O., Dokras, A., Laven, J., Hoeger, K., & Piltonen, T. T. (2024) · Nature Reviews Disease Primers · doi:10.1038/s41572-024-00511-3 · Cited by 495
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Immunological and Metabolic Causes of Infertility in Polycystic Ovary Syndrome
Kicińska, A. M., Maksym, R., Zabielska-Kaczorowska, M. A., Stachowska, A., & Babińska, A. (2023) · Biomedicines · doi:10.3390/biomedicines11061567 · Cited by 108
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Metadata
- Authors
- Dapas, M., & Dunaif, A.
- Affiliations
- University of Chicago (US)
- Icahn School of Medicine at Mount Sinai (US)
- 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
- 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
- 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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