Searchable abstracts of presentations at key conferences in endocrinology

ea0039ep85 | Miscellaneous/other | BSPED2015

Digenic mutation resulting in a rare form of diazoxide responsive congenital hyperinsulinism

Giri Dinesh , Flanagan Sarah E , Ellard Sian , Didi Mohammed , Senniappan Senthil

Introduction: Congenital hyperinsulinism (CHI) results from unregulated insulin secretion from pancreatic β-cells, which leads to persistent hypoglycaemia. Mutations in nine different genes are reported and phenotypic variability exists both within and between the genetic subgroups. Variable penetrance has been described in some families with the same mutation; for example HNF4A mutations cause neonatal hypoglycaemia and/or maturity onset diabetes of the young (M...

ea0033p21 | (1) | BSPED2013

Long-term endocrine and exocrine outcome of medically unresponsive diffuse congenital hyperinsulinism managed with near-total pancreatectomy: 18 years' experience

Arya Ved Bhushan , Alam Syeda , Senniappan Senthil , Flanagan Sarah E , Ellard Sian , Hussain Khalid

Introduction: Diffuse congenital hyperinsulinism (CHI) is a major cause of severe hypoglycaemia. One treatment option is near-total pancreatectomy, which carries a risk of diabetes mellitus (DM) and pancreatic exocrine insufficiency.Objective: We report our centre’s experience on 36 consecutive medically unresponsive diffuse CHI children managed with near-total pancreatectomy.Methods: Following near-total pancreatectomy, these...

ea0024oc1.8 | Oral Communications 1 | BSPED2010

Clinical and Molecular Characterisation of 300 patients with Congenital Hyperinsulinism

Kapoor Ritika R , Flanagan Sarah E , Shield Julian P , Ellard Sian , Hussain Khalid

Background: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in seven genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1 and HNF4A) are known to cause CHI.Aim: To characterise the clinical and molecular aspects of a large cohort of patients with CHI.Methodology: 300 patients with biochemically confirmed CHI were recruited. Detailed clinical information was collected prior to geno...

ea0033p24 | (1) | BSPED2013

Normoammonaemic Protein Sensitive Hyperinsulinaemic Hypoglycaemia: ? A novel syndrome

Arya Ved Bhushan , Heslegrave Amanda , Shah Pratik , Gilbert Clare , Morgan Kate , Hinchey Louise , Flanagan Sarah E. , Ellard Sian , Hussain Khalid

Introduction: Hyperinsulinaemic hypoglycaemia (HH), characterized by unregulated insulin secretion from pancreatic β-cells, is an important cause of hypoglycaemia in children. Mutations in the KATP channel genes (ABCC8/KCNJ11) are the most common cause of congenital HH. The second common cause, hyperinsulinism hyperammonaemia (HIHA) syndrome caused by mutations in GLUD1 gene, is associated with elevated serum ammonia and protein sensitivity. W...

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...

ea0033p18 | (1) | BSPED2013

Altered plasma incretin concentrations in patients with non-typical forms of congenital hyperinsulinism

Shi Yanqin , Avatapalle Hima B , Skae Mars S , Padidela Raja , Newbould Melanie , Rigby Lindsey , Flanagan Sarah E , Ellard Sian , Rahier Jacques , Clayton Peter E , Banerjee Indraneel , Dunne Mark J , Cosgrove Karen E

Introduction: Congenital hyperinsulinism (CHI) may arise due to loss-of-function mutations in ABCC8 and KCNJ11 genes which encode subunits of ATP-sensitive potassium (KATP) channels. KATP channels couple nutrient metabolism with insulin secretion in pancreatic β-cells but are also located in enteroendocrine L- and K-cells and may play a role in the control of GLP-1 and GIP secretion respectively. More than 70% of patients with CHI h...

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...