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...

ea0063p467 | Calcium and Bone 2 | ECE2019

Discovery of a novel NOTCH2 mutation causing Hajdu Cheney Syndrome in a kindred with remarkable phenotypic diversity

Efstathiadou Zoe , Kostoulas Charilaos , Polyzos Stergios , Kalograni Fani , Tirkalas Sotirios , Adamidou Fotini , Georgiou Ioannis , Kita Marina

Introduction: Hajdu Cheney Syndrome (HCS) is a rare genetic autosomal dominant disorder affecting multiple organ systems, characterized by distinctive facial features, acroosteolysis and severe osteoporosis. In a limited number of cases, the disease appears in association with polycystic kidney disease (PKD) or CrohnÂ’s disease (CD). Splenomegaly has also been reported. Heterozygous gain-of-function mutations in NOTCH2 gene have been confirmed to be the cause of H...