Abstract Library

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#2176 New MENIN Mutation Associated with Familial Isolated Hyperparathyroidism. Clinical Case of Three Young Sisters.

Introduction: The primary hyperparathyroidism (PHPT) is a sporadic disorder in the majority of cases, and only 5-10% of cases are associated with familial syndromes. The following familial syndromes associated with PHPT are known to date: multiple endocrine neoplasia type 1 (MEN1), type 2A (MEN2A), type 4 (MEN4), hyperparathyroidism-jaw tumor syndrome (HPT-JT), familial hypocalciuric hypercalcemia (FHH), neonatal severe hyperparathyroidism (NSHPT) and familial isolated hyperparathyroidism (FIHP). FIHP is defined as hereditary PHPT without the association with other diseases or tumors and may be caused by mutations in MEN1, HRPT2, or CASR genes.

Conference: 15th Annual ENETSConcerence (2018)

Presenting Author: Krupinova K

Authors: Mokrysheva N, Krupinova J, Eremkina A, Tiulpakov A,

Keywords: primary hyperparathyroidism, familial isolated hyperparathyroidism, familial syndromes, MEN1, parathyroid hyperplasia,

#895 Determination of a Prognostic Classification System in Metastatic Grade 1 and 2 Pancreatic Neuroendocrine Tumors (PNETs)

Introduction: There is no clinical prognostic risk stratification tool available for metastatic grade 1 and 2 PNETs, which are a heterogeneous group.

Conference: 11th Annual ENETSConcerence (2014)

Presenting Author:

Authors: Fernández Plana J, Bestanti C, Thirlwell C, Campana D, Handkiewicz Junak D,

Keywords: classification system, PNETS, neuroendocrine tumors ,

#125 Ectopic hormone secreting phaeochromocytoma: A francophone observational study

Introduction: Ectopic hormone-secreting phaeochromocytomas are rare and only small reports of 1-2 cases exist in the literature. In the past, this condition has been linked with increased malignancy, familial syndromes and ACTH secretion.

Conference: 7th Annual ENETSConcerence (2010)

Presenting Author: Kirkby-Bott J

Authors: Kirkby-Bott J, Brunaud L, Mathonet M, Hamoir E, Kraimps J,

Keywords: phaeochromocytoma, ectopic hormone secretion, ACTH, calcitonin, VIP, Il-6, renin, aldosterone, cortisol, testosterone,