Abstract Search

ea0014p497 | (1) | ECE2007

Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene

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...

0 shares

Endocrine Abstracts

Neonatal severe hyperparathyroidism associated with a novel de novo heterozygous R551K inactivating mutation and a heterozygous A986S polymorphism of the calcium-sensing receptor gene

BiosciAbstracts