Endocrine Abstracts

Alkaline phosphatase (ALP) was discovered by Robert Robison, PhD in London in 1923. In New York in 1932, he added to his hypothesis that ALP functioned in skeletal calcification by liberating inorganic phosphate (Pi) for hydroxyapatite crystal formation, perhaps from a hexosephosphoric ester, some unknown factor also conditioning this process. In 1948 in Toronto, Canada, ‘hypophosphatasia’ (HPP) was coined by John C. Rathbun, MD to describe a unique rickets without r...

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder characterized by lifelong elevation of serum calcium concentrations with inappropriately low urinary calcium excretion. Three types referred to as FHH1, FHH2 and FHH3 and located on chromosomes 3q21.1, 19p and 19q13.3, respectively, have been reported. FHH1, caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), accounts for >65% of FHH patients. To identify the gen...