ArticleThe Journal of clinical endocrinology and metabolism2021
Characterizing the Clinical and Genetic Spectrum of Polycystic Ovary Syndrome in Electronic Health Records.
Article in The Journal of clinical endocrinology and metabolism, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 2 of them syntheses that pooled it.
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Who cites it
18 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Validity of administrative health data case definitions for identifying polycystic ovary syndrome: a systematic review and meta-analysis.Human reproduction (Oxford, England) · 2025Pooled it
- Fully exploiting SNP arrays: a systematic review on the tools to extract underlying genomic structure.Briefings in bioinformatics · 2022Pooled it
- Diagnosed Polycystic Ovary Syndrome and Associated Severe Maternal Morbidity.Gynecologic and obstetric investigation · 2026Article
- Development of a case definition for polycystic ovary syndrome using administrative health data: a validation study.BMJ open · 2025Article
- POLYCYSTIC OVARY SYNDROME: ORIGINS AND IMPLICATIONS: Genetics of polycystic ovary syndrome (PCOS).Reproduction (Cambridge, England) · 2025Review
- Hypertension and Polycystic Ovary Syndrome Among Women in a Nationwide Electronic Health Records Dataset in the United States.Maternal and child health journal · 2025Article
- Prevalence and Diagnosis of PCOS Using Electronic Health Records: A Scoping Review and a Database Analysis.International journal of environmental research and public health · 2024Article
- Article
- Challenges in diagnosis and health care in polycystic ovary syndrome in Canada: a patient view to improve health care.BMC women's health · 2023Article
- Factors associated with self-report of polycystic ovary syndrome in the Coronary Artery Risk Development in Young Adults study (CARDIA).BMC women's health · 2023Article
- Sex modifies the effect of genetic risk scores for polycystic ovary syndrome on metabolic phenotypes.PLoS genetics · 2023Article
- Trends and opportunities in computable clinical phenotyping: A scoping review.Journal of biomedical informatics · 2023Article
- Genetic analyses implicate complex links between adult testosterone levels and health and disease.Communications medicine · 2023Article
- Deconstructing a Syndrome: Genomic Insights Into PCOS Causal Mechanisms and Classification.Endocrine reviews · 2022Article
- "I felt like she didn't take me seriously": a multi-methods study examining patient satisfaction and experiences with polycystic ovary syndrome (PCOS) in Canada.BMC women's health · 2022Article
- Characterizing the Clinical and Genetic Spectrum of Polycystic Ovary Syndrome in Electronic Health Records.The Journal of clinical endocrinology and metabolism · 2021Article
- Acupuncture therapy protects PCOS patients with diabetes by regulating miR-32-3p/PLA2G4A pathway.American journal of translational research · 2021Article
- Racial Differences in Dermatologic Treatment for Adolescents With PCOS-Related Acne Vulgaris.Pediatric dermatologyArticle
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
contextPolycystic ovary syndrome (PCOS) is one of the leading causes of infertility, yet current diagnostic criteria are ineffective at identifying patients whose symptoms reside outside strict diagnostic criteria. As a result, PCOS is underdiagnosed and its etiology is poorly understood.
objectiveWe aim to characterize the phenotypic spectrum of PCOS clinical features within and across racial and ethnic groups.
methodsWe developed a strictly defined PCOS algorithm (PCOSkeyword-strict) using the International Classification of Diseases, ninth and tenth revisions and keywords mined from clinical notes in electronic health records (EHRs) data. We then systematically relaxed the inclusion criteria to evaluate the change in epidemiological and genetic associations resulting in 3 subsequent algorithms (PCOScoded-broad, PCOScoded-strict, and PCOSkeyword-broad). We evaluated the performance of each phenotyping approach and characterized prominent clinical features observed in racially and ethnically diverse PCOS patients.
resultsThe best performance came from the PCOScoded-strict algorithm, with a positive predictive value of 98%. Individuals classified as cases by this algorithm had significantly higher body mass index (BMI), insulin levels, free testosterone values, and genetic risk scores for PCOS, compared to controls. Median BMI was higher in African American females with PCOS compared to White and Hispanic females with PCOS.
conclusionsPCOS symptoms are observed across a severity spectrum that parallels the continuous genetic liability to PCOS in the general population. Racial and ethnic group differences exist in PCOS symptomology and metabolic health across different phenotyping strategies.
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