Redefining Polycystic Ovary Syndrome: New Phenotypic Classifications and Implications.

Polycystic ovary syndrome (PCOS) is a complex disorder resulting from the interaction of susceptibility genes with environmental factors. Current diagnostic criteria were established by expert consensus. Genome-wide association studies have shown that the phenotypes defined by these criteria share similar genetic architectures and do not reflect meaningful biological differences. Many complex disorders are defined by criteria designed to accommodate phenotypic diversity, yet such criteria often group the convergent expression of multiple genetic etiologies under a single clinical diagnosis. Data-driven mathematical methods, enabled by large phenotypic datasets, offer a strategy for partitioning this variation into groups corresponding to divergent genetic underpinnings.