Endocrine Abstracts

Introduction: Familial Hypocalciuric Hypercalcemia (FHH) is a benign autosomal dominant condition caused by an inactivating mutation on the gene coding for the Calcium Sensing Receptor (CASR). CASR plays a role in regulating parathyroid secretion and calcium metabolism. The majority of adults with FHH are asymptomatic. This is a case of three young brothers whose genetic tests shows two mutations in each of their CASR gene leading to hypercalcemia and varying symptoms.<p c...