Searchable abstracts of presentations at key conferences in endocrinology

ea0029p249 | Calcium & Vitamin D metabolism | ICEECE2012

Chronic hypercalcemia, an unusual presentation in Q1011E heterozygous CaSR polymorphism

Maqdasy S. , Roche B. , Roques S. , Tauveron I. , Batisse-Lignier M.

Introduction: The extracellular calcium-sensing receptor (CaSR) is a G-protein coupled receptor (GPCR) that is expressed in the parathyroids and kidneys, where it allows regulation of parathyroid hormone (PTH) secretion and extracellular calcium concentrations. Inactivating heterozyogous CaSR mutations result in familial benign hypocalciuric hypercalcaemia. However, the role of CaSR polymorphisms in controlling serum calcium, PTH and bone mineral density (BMD) remains controve...