Endocrine Abstracts

Introduction: Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder affecting the calcium-sensing receptor (CaSR) expressed in the chief cells of the parathyroid glands and in the renal tubules. The CaSR permits the parathyroid gland to sense variations in serum calcium thus regulating parathyroid hormone (PTH) secretion; it also regulates calcium excretion in the kidneys. In FHH, loss-of-function mutations in the CaSR result in a higher serum calcium d...