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ea0070aep730 | Pituitary and Neuroendocrinology | ECE2020

Global methylation-demethylation status in pituitary neuroendocrine tumors as potential therapeutic target

Szabó Borbála , Németh Kinga , Mészáros Katalin , Szücs Nikolette , Czirják Sándor , Reiniger Lilla , Patócs Attila , Butz Henriett

Background: The altered DNA methylation of certain genes in Pituitary Neuroendocrine Tumors (PitNETs) are well known. However little information is available regarding global methylation changes and the process of demethylation in these tumors. In addition, influencing global methylation-demethylation could be a potential new therapeutic option especially in clinically non-functional PitNETs.Material and Methods: Overall, 44 fresh frozen pituitary adenom...

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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...

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Endocrine Abstracts

Global methylation-demethylation status in pituitary neuroendocrine tumors as potential therapeutic target

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