Endocrine Abstracts

Introduction: Familial hypocalciuric hypercalcemia (FHH) is a rare mostly asymptomatic genetic disorder affecting the calcium sensing receptor (CaSR) and its associated proteins with autosomal dominant inheritance. Mutation in AP2S1 gene is responsible for FHH3.Aim: Expand the phenotype of FHH type 3.Methods: Clinical and biochemical characterization of a patient with de-novo FHH3 mutation.Results: S...