Searchable abstracts of presentations at key conferences in endocrinology

ea0031oc5.2 | Pituitary and neoplasia | SFEBES2013

The role of microRNA miR-34a in the regulation of aryl hydrocarbon receptor interacting protein

Denes Judit , Kasuki Leandro , Trivellin Giampaolo , Gadelha Monica , Korbonits Marta

Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene predispose to early onset pituitary adenoma, with a preponderance of somatotrophinomas. Patients harbouring an AIP mutation respond poorly to somatostatin analogue (SSA) treatment. On the other hand, a subset of sporadic somatotrophinomas with no AIP mutations show low AIP protein expression and exhibit a decreased response to SSA treatment as well. microRNAs are small...

ea0032p859 | Pituitary – Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

Genetic and clinical characteristics of Serbian FIPA families

Miljic Dragana , Pekic Sandra , Stojanovic Marko , Dzeranova Nadezhda , Denes Judit , Gabrovska Plamena , Korbonits Marta , Popovic Vera

Introduction: Recently, major advances have been made in genetics of familial acromegaly and isolated pituitary adenoma (FIPA). Mutations in the aryl hydrocarbon interacting protein (AIP) gene have been found in 25–50% of patients with FIPA and familial acromegaly.Aim of the study: Our goal was to identify and collect data on patients who met the criteria for FIPA.Patients and methods: The patients were identified between 2008...

ea0022p188 | Clinical case reports and clinical practice | ECE2010

Case report of Borrelia burgdorferi infection as a possible trigger of Riedel’s thyroiditis

Kovacs Gabor Laszlo , Szabolcs Istvan , Gorombey Zoltan , Kovacs Laszlo , Hubina Erika , Denes Judit , Goth Miklos

Background: The detectable levels of thyroid antibodies in patients suffering from Riedel’s chronic fibrosing thyroiditis (RT) suggest a link between RT and Hashimoto’s thyroiditis, but the pathogenesis of RT is not really known. Lyme disease is the most frequent tick-borne infection with variable manifestations in different organs caused by Borrelia burgdorferi (Bb).Case report: A 59-year-old woman presented in our outpatient clinic wit...

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...

ea0070ep285 | Pituitary and Neuroendocrinology | ECE2020

Acromegaly and glucose metabolism – A case report

Denes Judit , Hargittay Csenge , Hubina Erika , Görömbey Zoltán , Oláh Dóra , Kovács László , Góth Miklós

Acromegaly is a rare disorder caused by growth hormone (GH) and insulin-like growth factor I (IGF-I) overproduction, associated with increased morbidity and mortality. It has different complications, among which insulin resistance, prediabetes and diabetes mellitus are substantial. GH affects glucose metabolism through different mechanisms. The therapy of GH overproduction (for example surgical or radiotherapy) improves glucose metabolism, while different types of medical ther...

ea0031oc5.8 | Pituitary and neoplasia | SFEBES2013

Pituitary adenoma and phaeochromocytoma/paraganglioma – a novel syndrome with a heterogeneous genetic background

Denes Judit , Swords Francesca , Rattenberry Eleanor , Xekouki Paraskevi , Kumar Ajith , Wassif Christopher , Fersht Naomi , Baldeweg Stephanie , Morris Damian , Lightman Stafford , Thompson Chris J , Agha Amar , Rees Aled , Druce Maralyn , Grieve Joan , Powell Michael , Boguszewski Cesar Luiz , Higham Claire , Davis Julian , Preda Cristina , Trouillas Jacqueline , Dalantaeva Nadezhda , Ribeiro-Oliveira Antonio , Dutta Pinaki , Roncaroli Federico , Thakker Rajesh V , Stevenson Mark , O'Sullivan Brendan , Taniere Phillipe , Skordilis Kassiani , Gabrovska Plamena , Barlier Anne , Ellard Sian , Stals Karen , Stratakis Constantine A. , Grossman Ashley B. , Maher Eamonn , Korbonits Marta

Pituitary adenomas and phaeochromocytoma/paragangliomas (PHAEO/PGL) can very rarely occur in the same patient or in the same family. Together, they are not known to be part of any classical endocrine neoplasia syndromes. In some caes the pathogenetic mechanism may be secondary to a PHAEO secreting GHRH leading to somatotroph hyperplasia and clinical acromegaly. However, we suggest several other mechanisms which could lead to the development of pituitary and PHAEO/PGL together:...

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...