Searchable abstracts of presentations at key conferences in endocrinology

ea0063p468 | Calcium and Bone 2 | ECE2019

Discovery of a novel CASR mutation causing Familial Hypocalciuric Hypercalcemia in a Greek family

Efstathiadou Zoe , Kostoulas Charilaos , Rottstein Laurentana , Georgiou Ioannis , Kita Marina

Introduction: Familial hypocalciuric hypercalcemia (FHH) causes lifelong hypercalcemia, which, in general, is not associated with significant morbidity. FHH1, the most common type of the disease, is inherited in an autosomal dominant pattern and caused by inactivating mutations in the Calcium Sensing Receptor (CaSR) gene, located in chromosome 3. Inactivation of CaSR in parathyroid cells results in a shift of calcium set point to higher values with consequent...