Endocrine Abstracts

Introduction: Inactivating mutations of the calcium sensing receptor (CASR) are associated with familial benign hypercalcaemia (FBH) and neonatal severe hyperparathyroidism whilst activating mutations are associated with autosomal dominant hypocalcaemia (ADH) and Bartter syndrome Type V.Aims: To highlight the phenotypic and biochemical variability seen with both activating and inactivating mutations of the CaSR.Methods: To describe...