ea0014p497 | (1) | ECE2007
Toke Judit
, Czirják Gábor
, Patócs Attila
, Enyedi Balázs
, Gergics Péter
, Csákváry Violetta
, Enyedi Péter
, Tóth Miklós
Objectives: Neonatal severe hyperparathyroidism (NSHPT) is induced by inactivating mutations of human calcium-sensing receptor (CaSR). We report the case of a now 11 year-old boy with NSHPT. We characterize a novel inactivating mutation with the results of some functional analyses.Case: In the neonatal age the patient presented the clinical syndrome of NSHPT. At the age of 6 years, persisting hypercalcemia without clinical symptoms was documented, and th...