Searchable abstracts of presentations at key conferences in endocrinology

ea0023oc5.4 | Oral Communications 5 | BSPED2009

Diabetes mellitus and hyperinsulinaemic hypoglycaemia (HH) due to dominant ABCC8/KCNJ11 mutations

Kapoor Ritika R , Flanagan Sarah E , McKiernan John , Shield Julian P , Tinker Andrew , Ellard Sian , Hussain Khalid

Background: The pancreatic β-cell KATP channel plays a key role in glucose stimulated insulin secretion and is encoded by the genes ABCC8 and KCNJ11. Recessive mutations in ABCC8/KCNJ11 cause severe medically unresponsive HH. Recently, dominant mutations in these genes have been described that cause mild, medically responsive HH. Controversy exists on whether these dominant ABCC8/KCNJ11 mutations predispose to diabetes mellitus in ad...

ea0077oc1.3 | Reproductive and Neuroendocrinology | SFEBES2021

Acromegalic cardiomyopathy in pituitary-specific aryl hydrocarbon receptor interacting protein (Aip) gene knockout animals

Mistry Anisha , Funge Gregory , Sebastian Sonia , Aziz Qadeer , Solomou Antonia , Vignola Maria Lillina , Thong Lim Chung , Herincs Maria , Caimari Francisca , Gaston-Massuet Carles , Tinker Andrew , Korbonits Marta

Introduction: Patients with a germline loss-of-function mutation in AIP are predisposed to young-onset GH excess resulting in gigantism or acromegaly. Acromegaly leads to disease-specific cardiomyopathy with biventricular hypertrophy and diastolic dysfunction progressing to fulminant cardiac failure if left untreated, therefore it is vital to have a tractable animal model to investigate the diseaseFindings: Our AipFlox/Flox;<...

ea0094p363 | Neuroendocrinology and Pituitary | SFEBES2023

Hindering the progression of cardiac fibrosis in acromegaly – the role of somatostatin receptor ligands

Sanpawithayakul Kanokporn , Mistry Anisha , Rai Ashutosh , Funge Gregory , Sebastian Sonia , Solomou Antonia , Lillina Vignola Maria , Gaston-Massuet Carles , Tinker Andrew , Begalli Federica , Korbonits Marta

Introduction: Acromegaly links to cardiomyopathy and potential cardiac failure, if untreated. Mechanisms involved in acromegalic cardiomyopathy are incompletely understood. We investigated the effects of growth hormone (GH) excess and somatostatin receptor ligands (SRLs) on cardiac fibrosis using an acromegalic mouse model with pituitary-specific deletion of the Aip gene coding aryl hydrocarbon receptor interacting protein (AipFlox/Flox;Hesx1<su...