Searchable abstracts of presentations at key conferences in endocrinology

ea0077p212 | Neuroendocrinology and Pituitary | SFEBES2021

Cabergoline treatment in human primary non-functioning pituitary adenomas

Begalli Federica , Komagata Tatsuya , Suleyman Oniz , Magid Kesson , Rice Thomas , Collier David , Dorward Neil , Grieve Joan , Mendoza Nigel , Nair Ramesh , Kolias Angelos , Khan Danyal , Marcus Hani J , Botta Joaquin , McCormick Peter J , Shinozaki Koji , Korbonits Marta

Non-functioning pituitary adenomas (NFPAs) are the second most common subtype (15-43%) of all clinically presenting pituitary adenomas. Although the primary treatment of symptomatic NFPAs is surgery, gross total resection is achieved only in about 66% of the cases, and 20% of gross total resected tumours recur after 10 years. Despite recent advances in medical management of pituitary tumours, NFPAs remain the only subtype with no widely accepted pharmacological treatment. Expr...

ea0077p223 | Neuroendocrinology and Pituitary | SFEBES2021

Generation of normative data on serum insulin-like growth factor I (IGF-I) in healthy school children of a north indian city

Dutta Pinaki , Teja KV Ravi , Aggarwal Arun , Sachdeva Naresh , Malhotra Bhanu , Das Liza , Walia Rama , Rastogi Ashu , Bhansali Anil , Bhadada Sanjay , Pal Rimesh , G Dewan , Marwaha R K , Monaghan Phillip , Trainer Peter , Korbonits Marta

Context: To diagnose and monitor GH-related disorders, serum IGF-I is a cornerstone, but Indian ethnicity based data, following consensus criteria for establishment of normative data are not available.Objectives: To generate normative IGF-I data for chronological age, bone age (BA) [Greulich & Pyle] and Tanner stage for both genders.Setting and Participants: We conducted a cross-sectional epidemiological study for children (age...

ea0081ep698 | Pituitary and Neuroendocrinology | ECE2022

Age and puberty based IGF-1 normative data in healthy children from North India.

Malhotra Bhanu , Teja Kv Ravi , Bhadada Sanjay , Rastogi Ashu , Bhansali Anil , Sachdeva Naresh , Minz Ranjana Walker , Walia Rama , Prakash Mahesh , Aggarwal Arun Kumar , Dewan Gajinder , Das Liza , Monaghan Philip , Trainer Peter , Korbonits Marta , Marwaha Raman Kumar , Dutta Pinaki

Context: Serum IGF-1 levels are of paramount importance for diagnosis and management of growth related disorders. The reference range of IGF- 1 should be ethnicity and Tanner specific. Indian data on the same is scarce and there is a need to develop the same.Objective: To develop age, sex and Tanner based normative reference range of serum IGF-1 level for Indian children and correlate the same with peri-pubertal hormonal parameters.<p class="abstext"...

ea0065oc2.2 | Neuroendocrinology, Pituitary and Neoplasia | SFEBES2019

Investigating the role of AIP in pituitary tumourigenesis

Mistry Anisha , Solomou Antonia , Vignola Maria Lillina , Lim Chung Thong , Herincs Maria , Caimari Francisca , Costa Alejandro Ibanez , Begalli Federica , Gualtieri Angelica , Roncaroli Federico , Rizzoti Karine , Gaston-Massuet Carles , Korbonits Marta

Introduction: Germline mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene predispose to growth hormone (GH, 90% of patients) or prolactin (PRL)-secreting tumours, with negligible number of patients with other pituitary tumour types. Animal models of acromegaly are scarce and Aip models have controversial data. Therefore we have generated two pituitary-specific Aip knockout mouse models to study the consequences of loss of AIP p...

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...

ea0034p182 | Neoplasia, cancer and late effects | SFEBES2014

Pre-clinical assessment of the impact of Erlotinib on adrenocortical cancer cells proliferation

Dworakowska Dorota , Dudka Dorota , Weitsman Gregory , King Peter , Katugampola Harshini , Korbonits Marta , Schulte Klaus-Martin , Diaz-Cano Salvador , McGregor Alan , Grossman Ashley B , Aylwin Simon , Sworczak Krzysztof , Ng Tony

Introduction: Adrenocortical carcinoma (ACC) has a poor prognosis and limited therapeutic options. The epidermal growth factor receptor (EGFR) expression was found to be a good discriminator between malignant and benign adrenal tumours, but was mutated only in 3–10% of ACC cases.Aim: The aim of this study was to assess the effect of inhibition of EGFR with targeted therapies, i.e. Erlotinib (with and without EGF stimulation) on ACC cell proliferatio...

ea0034p232 | Obesity, diabetes, metabolism and cardiovascular | SFEBES2014

High incidence of cardiac involvement in patients diagnosed with phaeochromocytoma: a clinical study using cardiovascular magnetic resonance imaging

Ferreira Vanessa , Rodrigues Mafalda , Piechnik Stefan , Marini Claudia , Karamitsos Theodoros , Francis Jane , Arnold Ranjit , Mihai Radu , Thomas Julia , Herincs Maria , Korbonits Marta , Hassan-Smith Zaki , Arlt Wiebke , Karavitaki Niki , Grossman Ashley , Neubauer Stefan , Wass John

Background: In patients with phaeochromocytoma, sudden and/or chronic exposure to catecholamines may predispose to cardiac pathology, including left ventricular (LV) hypertrophy, myocardial infarction, stress-induced cardiomyopathy and heart failure. We conducted the first prospective, multicentre study using cardiovascular magnetic resonance (CMR) imaging to describe the variety and incidence of cardiac abnormalities in phaeochromocytoma.Methods: Fifty ...

ea0070aep281 | Diabetes, Obesity, Metabolism and Nutrition | ECE2020

The MAFA gene mutation responsible for familial insulinomatosis and diabetes impairs insulin secretion and results in downregulation of critical cell cycle regulators

Iacovazzo Donato , Thong Lim Chung , Quezado Rosana , Drummond Juliana , Antonio de Sousa Barros Fernando , Cuenco Joyceline , Brändle Michael , Walker Emily , Guo Min , Collier David , Khan Faraz , Wang Jun , Tan Tricia , Ellard Sian , Stein Roland , Korbonits Marta

The islet-enriched transcription factor MAFA regulates the expression of genes critical to beta cell function and insulin secretion. We previously described anovel MAFA mutation (c.191C > T, p.S64F) causing familial insulinomatosis and diabetes mellitus, with male carriers more often developing diabetes and females more prone to insulinomatosis. The exact molecular mechanisms underlying these phenotypes are unclear. In this study, we assessed glucose metabolism an...

ea0070aep600 | Pituitary and Neuroendocrinology | ECE2020

Phenotypic differences between patients with familial pituitary neuroendocrine tumours due to MEN1 or AIP mutations

Marques Pedro , Magalhães Daniela , Caimari Francisca , Hernández Ramírez Laura , Collier David , Lim Chung , Stals Karen , Ellard Sian , Druce Maralyn , Akker Scott , Waterhouse Mona , Drake William , Grossman Ashley B. , Korbonits Marta

Introduction: Germline AIP and MEN1 mutations are the main known aetiologies of familial pituitary neuroendocrine tumours (PitNETs), which represent 5% of all PitNETs. We compared the clinical and tumour characteristics of AIP (AIP mut) and MEN1 mutation-positive (MEN1 mut) PitNET patients.Methods: We retrospectively analysed 70 MEN1 mut and 167 AIP mut patients with PitNETs. MEN...