Department of Microbiology, Immunology, and Physiology, Meharry Medical College, Nashville, Tennessee.
Vanderbilt Genetics Institute, Vanderbilt University Medical Center, Nashville, Tennessee.
J Clin Endocrinol Metab. 2021 Jan 1;106(1):153-167. doi: 10.1210/clinem/dgaa675.
Polycystic 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.
We aim to characterize the phenotypic spectrum of PCOS clinical features within and across racial and ethnic groups.
We 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.
The 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.
PCOS 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.
多囊卵巢综合征（PCOS）是导致不孕的主要原因之一，但目前的诊断标准无法有效识别症状不符合严格诊断标准的患者。因此，PCOS 的诊断不足，其病因也知之甚少。
我们旨在描述不同种族和族裔群体中 PCOS 临床特征的表型谱。
我们使用国际疾病分类第 9 版和第 10 版以及从电子健康记录 (EHR) 数据中的临床记录中挖掘的关键词，制定了一个严格定义的 PCOS 算法（PCOSkeyword-strict）。然后，我们系统地放宽纳入标准，以评估纳入标准放宽后对流行病学和遗传关联的影响，从而产生了 3 个后续算法（PCOScoded-broad、PCOScoded-strict 和 PCOSkeyword-broad）。我们评估了每种表型方法的性能，并描述了不同种族和族裔的 PCOS 患者中观察到的主要临床特征。
表现最佳的是 PCOScoded-strict 算法，其阳性预测值为 98%。与对照组相比，通过该算法分类为病例的个体的体重指数 (BMI)、胰岛素水平、游离睾酮值和 PCOS 的遗传风险评分显著更高。与 PCOS 的白人和西班牙裔女性相比，患有 PCOS 的非裔美国女性的 BMI 中位数更高。
PCOS 症状存在于与一般人群中 PCOS 的连续遗传易感性相一致的严重程度谱中。不同表型策略中，PCOS 症状和代谢健康在不同种族和族裔群体中存在差异。
