Searchable abstracts of presentations at key conferences in endocrinology

ea0081ep765 | Pituitary and Neuroendocrinology | ECE2022

Head and neck paragangliomas: the belfast trust experience

Darrat Milad , Bailie Neil , Hampton Susie , Cooke Stephen , Weir Philip , Lau Louis , Herron Brian , Morrison Patrick J , Johnston Philip

Background: Head and neck paragangliomas (HNPGL) are rare, usually benign slow-growing tumours arising from neural crest-derived tissue. Definitive treatment strategies for HNPGL have not been clearly defined.Aims: To provide a comprehensive review of our institutional experience of the clinical features, investigations, management and follow up of this cohort.Methods: Baseline clinical information was taken from a prospectively ma...

ea0104p131 | Endocrine Cancer & Late Effects | SFEIES24

A decade of abdominal paragangliomas in the northern ireland regional referral centre

Benjamin Loughrey Paul , Cvasciuc Titus , Rajendran Simon , Mullan Karen R. , Eatock Fiona , Hunter Steven J. , Morrison Patrick J. , Johnston Philip C.

Background: Paragangliomas are rare neuroendocrine tumours of the sympathetic and parasympathetic paraganglia. Optimal outcomes are dependent on careful investigation, management and follow-up.Aim: The aim of this audit was to review clinicopathological characteristics of a cohort of operated abdominal paragangliomas in Northern Ireland.Methods: This is a retrospective audit of abdominal paragangliomas from the Northern Ireland reg...

ea0044p249 | Thyroid | SFEBES2016

ESR2 mutations in RET mutation-negative familial medullary thyroid carcinoma

Afghan Wazir K. , Iacovazzo Donato , Alevizaki Maria , Foulkes William , Lugli Francesca , Druce Maralyn , Dutta Pinaki , Dang Mary N. , Gabrovska Plamena , Morrison Patrick J. , Owens Martina , Ellard Sian , Sampson Julian , De Marinis Laura , Korbonits Marta

Introduction: Approximately 25% of medullary thyroid cancer (MTC) cases arise in a familial setting, either as MEN2 or fMTC. While most of these are caused by mutations in the RET gene, a few families have unidentified mutations. Recently, a frameshift mutation in the ESR2 gene (coding oestrogen receptor beta) was found in a family with RET-negative fMTC associated with C-cell hyperplasia. In vitro, transfection of mutant ESR2 led t...

ea0031oc4.7 | Obesity, metabolism and bone | SFEBES2013

Familial hypocalciuric hypercalcaemia type 3 is caused by mutations in adaptor protein 2 sigma 1

Nesbit M Andrew , Hannan Fadil M , Howles Sarah A , Reed Anita A C , Cranston Treena , Thakker Clare E , Gregory Lorna , Rimmer Andrew J. , Rust Nigel , Graham Una , Morrison Patrick J , Hunter Steven J , Whyte Michael P , Thakker Rajesh V

Familial hypocalciuric hypercalcaemia (FHH) is an autosomal dominant disorder characterized by lifelong elevation of serum calcium concentrations with inappropriately low urinary calcium excretion. Three types referred to as FHH1, FHH2 and FHH3 and located on chromosomes 3q21.1, 19p and 19q13.3, respectively, have been reported. FHH1, caused by loss-of-function mutations of the calcium-sensing receptor (CaSR), accounts for >65% of FHH patients. To identify the gen...

ea0038p304 | Pituitary | SFEBES2015

The founder R304* AIP mutation is prevalent in Irish acromegaly and gigantism patients as well as in the general population of Ireland

Radian Serban , Diekmann Yoan , Gabrovska Plamena , Holland Brendan , Bradley Lisa , Wallace Helen , Stals Karen , Bussell Anna-Marie , McGurren Karen , Cuesta Martin , Ryan Anthony W , Herincs Maria , Hernandez-Ramirez Laura C , Holland Aidan , Samuels Jade , Aflorei Elena Daniela , Barry Sayka , Denes Judit , Pernicova Ida , Stiles Craig E , Trivellin Giampaolo , McCloskey Ronan , Ajzensztejn Michal , Abid Noina , Akker Scott A , Mercado Moises , Cohen Mark , Thakker Rajesh V , Baldeweg Stephanie , Barkan Ariel , Musat Madalina , Levy Miles , Orme Steve , Unterlander Martina , Burger Joachim , Kumar Ajith V , Ellard Sian , McPartlin Joseph , McManus Ross , Linden Gerard J , Atkinson Brew , Thomas Mark G , Balding David J , Agha Amar , Thompson Chris J , Hunter Steve J , Morrison Patrick J , Korbonits Marta

Background: A founder mutated AIP allele, R304* was previously identified in several Irish familial isolated pituitary adenoma (FIPA) pedigrees from a small region within Mid Ulster, Northern Ireland, but the allele’s general population impact remains unknown.Aims: To estimate R304* prevalence in the general population and pituitary adenoma (PA) patients and to calculate the allele’s time to most recent common ancestor (tMRCA).<p c...