Searchable abstracts of presentations at key conferences in endocrinology

ea0063p237 | Pituitary and Neuroendocrinology 1 | ECE2019

Some risk factors of re-growth of non-functional pituitary adenomas in patients with growth hormone deficiency

Urmanova Yulduz , Grossman Ashley , Khalimova Zamira , Powell Michael , Korbonits Marta , Shakirova Mukhlisa , Pankiv Vladimir , Alieva Dinara , Tursunkulov Ortikali

Aim: The aim of investigation to determine clinical aggressiveness diagnostic markers in patients with non-functional pituitary adenomas (NFPA), and growth hormone deficiency (GHD) in the formation of gravity neuroendocrine disease symptoms.Material and methods: We observed in 87 patients (including man – 44 women – 43) of which have a verified diagnosis of NFPA after surgery – 31 which were subjected transnasal adenomectomy of the pituiat...

ea0049gp195 | Pituitary & endocrine Tumours | ECE2017

Long-term follow-up of a family with a large AIP gene deletion: variable phenotypes and challenges in the management

Marques Pedro , Dang Mary , Ogilvie Arla , Storr Helen , Powell Michael , Grieve Joan , Evason Jane , Kumar Ajith , Korbonits Marta

Introduction: Germline aryl hydrocarbon receptor-interacting protein (AIP) mutations are responsible for 15–30% of familial isolated pituitary adenomas (FIPA). We report a 4-generation FIPA kindred with a heterozygous AIP gene deletion in exon 2, highlighting the benefits of genetic screening and management challenges in affected subjects and asymptomatic carriers.Patients: A 45y woman died of a spinal ependymoma (obligate carrier)...

ea0044p131 | Neoplasia, cancer and late effects | SFEBES2016

Metformin alters an anti-proliferative effect of Mitotane in a human adrenocortical cancer (H295R) cell line: preliminary results

Dworakowska Dorota , Szyszka Paulina , Weitsman Gregory , Diaz-Cano Salvador , Korbonits Marta , Grossman Ashley , Bornstein Stefan , Ng Tony

Introduction: Metformin is used as a first line treatment in type 2 diabetes. Several studies suggest that patients with type 2 diabetes treated with metformin may have reduced cancer risk. Recently it has been shown that Metformin acts directly on mitochondria to alter cellular bioenergetics and reduce tumorigenesis. We have shown that anti-proliferative effect of Mitotane is related with changes of expression of the genes involved in mitochondrial metabolism in human adrenoc...

ea0041oc5.1 | Neuroendocrinology | ECE2016

The Drosophila AIP orthologue is essential for actin cytoskeleton stabilisation and cell adhesion

Aflorei Elena Daniela , Klapholz Benjamin , Moderau Nina , Baptista-Ribeiro Paulo , Tapon Nic , Brown Nick , Stanewsky Ralf , Korbonits Marta

Introduction: Tumours with aryl hydrocarbon receptor interacting (AIP) mutations often show an unusually aggressive and invasive clinical course as up to 80% of AIP positive pituitary adenomas have a certain degree of extrasellar extension. The exact mechanisms by which AIP inactivation promotes an aggressive behaviour remain unknown. The majority of adenohypophysis is composed of sinuous cords of epithelial cells and consequently, molecules that can induce remodellin...

ea0059p127 | Neuroendocrinology and pituitary | SFEBES2018

Identifying disease causing variants in aryl hydrocarbon receptor-interacting protein (AIP) variants and their significance on the clinical phenotypes

Yang Zhou Jordi , Lillina Vignola M , Collier David , Thong Lim Chung , Iacovazzo Donato , Awad Sherine , Korbonits Marta

Introduction: Mutations in the aryl hydrocarbon receptor-interaction protein (AIP) gene predisposes to growth hormone or prolactin secretin adenomas, usually, manifesting before the age of 30 years old. There are 834 variants of the AIP reported in the GnomAD database and over 100 variants have been described in patients with pituitary adenomas. While the pathogenic role of variants resulting in truncated protein is beyond doubt, determination of the clinical...

ea0038p305 | Pituitary | SFEBES2015

In vitro effects of Imatinib on somatotrophinoma cell line

Gupta Prakamya , Rai Ashutosh , Sachdeva Naresh , Radotra Bishan Das , Bhansali Anil , Mukherjee Kanchan Kumar , Hota Debashish , Korbonits Marta , Dutta Pinaki

Introduction: Acromegaly is a neuroendocrine disorder caused by excessive secretion of growth hormone (GH). Current treatment includes surgery, radiotherapy and drugs like somatostatin or dopamine receptor agonist. In spite of combination of therapies cure rate is dismal. There is a quest for new therapeutic targets with optimal efficacy, least side effect without any cost constraints. Recently, a few reports have shown that tyrosine kinase inhibitor (Imatinib) causes growth f...

ea0037ep805 | Pituitary: clinical | ECE2015

Pituitary apoplexy in GH-deficient adults treated with GH – a KIMS database retrospective study

Radian Serban , Jonsson Peter J , Camacho-Hubner Cecilia , Biller Beverly M K , Buchfelder Michael , AEkerblad Ann-Charlotte , Korbonits Marta

Background: Pituitary apoplexy (PitApo) has significant associated-morbidity and its management is not yet standardised.Aim: To describe prevalence and characteristics of PitApo patients in GH deficient (GHD) patients compared with two control populations.Patients and methods: Patients with ‘infarction-apoplexy’ GHD aetiology code were identified from Pfizer International Metabolic Database (KIMS). Baseline characteristic...

ea0032p825 | Pituitary–Basic (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2013

Drosophila melanogaster as a model organism to study aryl hydrocarbon receptor interacting protein gene function

Aflorei Elena Daniela , Chen Chenghao , Klapholz Benjamin , Grossman Ashley B , Tapon Nicolas , Brown Nicholas H , Stanewsky Ralf , Korbonits Marta

Introduction: Loss-of-function mutations in AIP are associated with familial isolated pituitary adenoma, often leading to gigantism due to invasive GH-secreting pituitary adenomas. One challenging problem in the management of patients carrying a missense AIP variant is to determine whether the missense variant is a disease-causing mutation or not. As most of the molecular mechanisms involved in the control of growth and the cell cycle are well-conserved, we p...

ea0031p254 | Pituitary | SFEBES2013

Creation of a locus-specific database for AIP mutations

Begum Fauzia , Trivellin Giampaolo , Gabrovska Plamena , Wertheim-Tysarowska Katarzyna , Jones Michael , Stals Karen , Ellard Sian , Radian Serban , Korbonits Marta

Locus-specific databases (LSDBs) have been recently developed in response to the increasing number of genetic changes reported in the human genome. LSDBs have been created for several genes implicated in endocrine syndromes, for example MEN1, VHL, RET, GNAS, PRKAR1A and the SDH subunits. Mutations in AIP are found in about 20% of familial isolated pituitary adenoma (FIPA) patients.The aim of this proj...

ea0028p241 | Pituitary | SFEBES2012

Can the stability of variant aryl hydrocarbon receptor interacting protein (AIP) be a marker for pathogenicity in FIPA (familial isolated pituitary adenoma)?

Martucci Federico , Trivellin Giampaolo , Garcia Edwin , Dalantaeva Nadezhda , Chapple Paul , Pecori Giraldi Francesca , Grossman Ashley , Korbonits Marta

Background: 20% of the familial isolated pituitary adenoma (FIPA) population harbour an aryl hydrocarbon receptor-interacting protein (AIP) gene mutation. The recognition of whether a variant is pathogenic can be difficult, in cases where the observed change does not lead to a truncated protein. Segregation with disease in a family, in silico predictions, loss of heterozigosity in the tumour, in vitro functional studies and screening of the variant in controls may help in asce...