Endocrine Abstracts

Familial Hypocalciuric Hypercalcaemia (FHH), originally described in 1966, was first linked to mutations in the Calcium-Sensing Receptor (CaSR) gene in 1993. FHH results from inactivating mutations affecting a single allele inherited in an autosomal dominant pattern. The calcium-sensing receptor is a cell surface-expressed G protein-coupled receptor with 1078 amino acids. Gene mutations are usually single-point in nature and result in an elevated set point for calcium sensing ...