Endocrine Abstracts

Familial Hypocalcuric Hypercalcaemia (FHH) is an autosomal dominant condition associated with inactivating mutations of the human calcium sensing receptor (CaSR) gene (heterozygotes). Neonatal Severe Primary Hyperparathyroidism (NSHPT) affects infants who inherit two such inactivating copies (homozygotes). NSHPT is frequently fatal without parathyroidectomy (PTx).Between 1984 and 2003 we have diagnosed and treated seven children (4M, 3F) with NSHPT. All ...