Searchable abstracts of presentations at key conferences in endocrinology

ea0044ep80 | (1) | SFEBES2016

Glioma in an AIP mutation carrier patient

Datta Shiv , Dang Mary N. , Baborie Atik , Korbonits Marta

Introduction: Around 15–20% of patients suffering from familial isolated pituitary adenoma (FIPA) possess heterozygous germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. AIP carriers are predisposed to pituitary adenomas with a penetrance of approximately 20%. No other tumours have been observed in subjects with AIP mutations, hence the name “isolated”. AIP is acting as a tumour suppressor gene in the p...

ea0044ep79 | (1) | SFEBES2016

Pseudoacromegaly - a differential diagnostic problem for acromegaly

Spencer Rupert , Dahlqvist Per , Dang Mary N. , Johannsson Gudmundur , Korbonits Marta

Introduction: Acromegaly is usually not a difficult condition to diagnose if the possibility of this diagnosis has been raised. However, there are a few conditions presenting with some aspects of acromegaly or gigantism but without growth hormone excess. Such cases are described as ‘pseudoacromegaly’ (acromegaloidism).Methods: A female patient was first investigated for GH excess at 10 y for tall stature since infancy (over 97th perc...

ea0048o2 | Oral Communications | SFEEU2017

Metastatic pituitary carcinoma in an SDHB mutation positive patient

Tufton Nicola , Roncaroli Federico , Hadjudemetriou Irene , Dang Mary N , Denes Judit , Guasti Leonardo , Thom Maria , Powell Michael , Baldeweg Stephanie E , Fersht Naomi , Korbonits Marta

Case history: A 63-year-old female presented with bi-temporal hemianopia. Pituitary MRI demonstrated a macroadenoma with suprasellar extension. Her medical history included a glomus tumour of the right ear treated with external beam radiotherapy (EBRT) 25 years previously. She had no evidence of pituitary hormone abnormality and had normal urinary metanephrines levels. She underwent transsphenoidal surgery with total resection and full recovery of her visual fields. Immunohist...

ea0044p167 | Neuroendocrinology and pituitary | SFEBES2016

Polymorphism or mutation? – The role of the R304Q missense AIP mutation in the predisposition to pituitary adenoma

Mothojakan Nadira B , Ferrau Francesco , Dang Mary N , Barlier Anne , Chanson Philippe , Occhi Gianluca , Daly Adrian F , Schofl Christof , Dal Jakob , Gadelha Monica R , Ludman Mark , Kapur Sonal , Iacovazzo Donato , Korbonits Marta

Introduction: Heterozygous mutations in the AIP gene are associated with young-onset pituitary adenomas while homozygous loss of AIP in animal models is lethal. As early diagnosis could lead to better outcomes, family members of AIP mutation-positive patients need follow up. The R304Q variant is commonly described as pathogenic based on clinical assessment. However, it is also present in the general population (minor-allele-frequency (MAF) 0.0007&#15...

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...

ea0044oc1.5 | Early Career Oral Communications | SFEBES2016

A missense mutation in the islet-enriched transcription factor MAFA leads to familial insulinomatosis and diabetes

Iacovazzo Donato , Flanagan Sarah E. , Walker Emily , Caswell Richard , Brandle Michael , Johnson Matthew , Wakeling Matthew , Guo Min , Dang Mary N. , Gabrovska Plamena , Niederle Bruno , Christ Emanuel , Jenni Stefan , Sipos Bence , Nieser Maike , Frilling Andrea , Dhatariya Ketan , Chanson Philippe , de Herder Wouter , Konukiewitz Bjorn , Kloppel Gunter , Stein Roland , Ellard Sian , Korbonits Marta

Introduction: Insulinomatosis is a rare disorder characterised by persistent hyperinsulinaemic hypoglycaemia (PHH) due to the occurrence of multifocal pancreatic insulinomas. This condition, whose pathogenesis is unknown, can occur in a familial setting. Paradoxically, while some family members develop PHH, others develop diabetes mellitus.Methods: We have identified a family with autosomal dominant familial insulinomatosis and diabetes. Exome sequencing...

ea0038p306 | Pituitary | SFEBES2015

Unique clinical picture in patients with X-linked acrogigantism

Iacovazzo Donato , Jose Sian , Bunce Benjamin , Caswell Richard , Hernandez-Ramirez Laura Cristina , Caimari Francisca , Ferrau Francesco , Kapur Sonal , Gabrovska Plamena , Dang Mary N , Rodd Celia , Vance Mary Lee , Ramirez Claudia , Mercado Moises , Goldstone Anthony P , Buchfelder Michael , Burren Christine , Dutta Pinaki , Choong Catherine , Cheetham Timothy , Roncaroli Federico , Ellard Sian , Sampson Julian , Korbonits M

Introduction: Non-syndromic pituitary gigantism can result from AIP mutations and the recently identified Xq26.3 microduplications causing X-LAG.Patients and methods: DNA samples and clinical data were collected from 151 patients with pituitary gigantism. All samples were tested for AIP mutations; AIP mutation negative cases (AIPneg) were screened for Xq26.3 microduplications.Results: Xq26.3 micr...