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ea0016p331 | Endocrine tumours | ECE2008

Novel MEN1 germline mutations and clinical features in Greek patients with multiple endocrine neoplasia type 1

Peppa Melpomeni , Pikounis Vasilios , Kamakari Smaragda , Peros George , Economopoulos Theofanis , Raptis Sotirios A , Hadjidakis Dimitrios

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant hereditary disorder, associated with mutations of the MEN1 gene, characterised by the combined occurrence of tumours of the parathyroid glands, the pancreatic islet cells and the anterior pituitary.Aim: To identify MEN1 gene mutations and characterize clinical manifestations in Greek patients with MEN1.Patients and methods: We studied 4 ...

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ea0022p378 | Endocrine tumours & neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Identification of a novel mutation of MEN1 gene in a patient with persisting primary hyperparathyroidism

Papanastasiou Labrini , Prevoli Anastasia , Pappa Theodora , Kamakari Smaragda , Kafritsa Paraskevi , Metaxa-Mariatou Vassiliki , Markou Athina , Piaditis George

Background: Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder characterized by the presence of endocrine and nonendocrine tumors. Until recently, more than 450 different germline mutations have been reported in MEN1 patients involving frameshift deletions, insertions, as well as nonsense mutations.Aim: To report a novel mutation in MEN1 gene in a young female with persisting primary hyperparathyroidism.<p class="ab...

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Endocrine Abstracts

Novel MEN1 germline mutations and clinical features in Greek patients with multiple endocrine neoplasia type 1

Identification of a novel mutation of MEN1 gene in a patient with persisting primary hyperparathyroidism

BiosciAbstracts