Endocrine Abstracts

Background: Phosphatidylinositol-3-kinase (PI3K) is a critical mediator of insulin action, and influences cellular growth, survival and metabolism. Recently, somatic gain-of-function mutations in the p110α catalytic subunit of PI3K (PIK3CA) have been found in a spectrum of overgrowth disorders, outlining the possibility of treatment with inhibitors of the PI3K–AKT–mTOR pathway.Methods/Results: A 37-year-old female, presented with life-long...