Abstract library

83 results for "familial isolated hyperparathyroidism".
#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 ENETS conference (2018)
Category: Case reports
Presenting Author: Julia Krupinova
#1180 A Novel Human Cell Line from Familial Medullary Thyroid Carcinoma
Introduction: Cell lines from hereditary medullary thyroid carcinomas (MTC) are very rare, therefore, there is a substantial need to establish new cell lines. Here, we present a novel familial MTC (FMTC) cell line, designated SCHWE.
Conference: 12th Annual ENETS Conference (2015)
Category: Basic Science - Genetics, epigenetics, miRNAs
Presenting Author: Roswitha Pfragner
#1579 Establishment and Characterization of a Continuous Cell Line from a Human Familial Medullary Thyroid Carcinoma
Introduction: introduction missing
Conference: 13th Annual ENETS conference (2016)
Category: ...none of the above
Presenting Author: Roswitha Pfragner
#262 Changes on Chromosome 18 are Involved in Sporadic and Familial Ileal Carcinoid Tumor Development
Introduction: Small intestine neuroendocrine tumors (ileal carcinoid) is generally considered a sporadic disease. We have identified nine families with an ileal carcinoid tumor diagnosed in two or more individuals.
Conference: 8th Annual ENETS Conference (2011)
Category: Clinical
Presenting Author: Professor Eva Tiensuu Janson
#1207 A Novel MEN1 Gene Variant in a Sporadic Case of Multiple Endocrine Neoplasia Type 1
Introduction: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disorder characterised by the occurrence of hyperparathyroidism, pituitary adenomas and duodeno-pancreatic neuroendocrine tumours (NETs). Germline mutations of the MEN1 gene are identified in up to 87% of MEN1 families and 82% of isolated MEN1 cases.
Conference: 12th Annual ENETS Conference (2015)
Category: Clinical cases/reports
Presenting Author: MD Donato Iacovazzo
#1681 Primary Hyperparathyroidism in Pregnancy: A Case Report
Introduction: Nausea and vomiting are common complaints during pregnancy. However, primary hyperparathyroidism in pregnancy can mimics these gastrointestinal symptoms and challenge the physician.
Conference: 14th Annual ENETS conference (2017)
Category: Clinical cases/reports
Presenting Author: Salwa Baki
Authors: Baki S, El Mghari G, El Ansari N, ...
#398 Ileal GEP-NEN in Mother and Son – Option for Familial Disease
Introduction: Familial cases of ileal GEP-NEN have been described on some few occasions in the literature. Speculations of familial disease with or without a relationship to MEN-1 or other inherited endocrine neoplasias have been made
Conference: 9th Annual ENETS Conference (2012)
Category: Clinical
Presenting Author: MD, PhD Joakim Hennings
#883 Primary Hepatic Neuroendocrine Tumors: Four Familial Case Series with Review of Literature
Introduction: Non-multiple endocrine neoplasia (MEN) familial neuroendocrine tumors (NET) are very rare with only six families being described to date. Primary hepatic neuroendocrine tumors (PHNETs) are rare tumors with a particular sporadic diagnosis. Herein, we report a series of four members of one Lebanese family, diagnosed with primary hepatic neuroendocrine tumors.
Conference: 11th Annual ENETS Conference (2014)
Category: Clinical cases/reports
Presenting Author: Dr Rita E Assi
#35 Primary Hyperparathyroidism in patients with gastric carcinoid Tumors type-1: an unusual coexistence
Introduction: Although a number of familiar endocrine syndromes are associated with primary hyperparathyroidism (PHP), there is no information regarding its prevalence in other sporadic neuroendocrine diseases.
Conference: 7th Annual ENETS Conference (2010)
Category: Clinical
Presenting Author: Dr Dimitrios Thomas
#263 Chronic Atrophic Gastritis Associated with Hyperparathyroidism: A prospective Study
Introduction: The association of gastric carcinoids (GCs) type 1 and hyperparathyroidism (HPTH) has been reported, whereas a possible association between chronic atrophic gastritis (CAG) and HPTH is still scant.
Conference: 8th Annual ENETS Conference (2011)
Category: Clinical
Presenting Author: Sara Massironi