Searchable abstracts of presentations at key conferences in endocrinology

ea0024s20 | Catherine Hall Memorial Lecture | BSPED2010

Catherine Hall Memorial Lecture: Congenital hyperinsulinism and DOPA-PET CT

Skae M

Congenital hyperinsulinism of infancy (CHI) is a rare disorder of insulin dysregulation, resulting in persistent hypoglycaemia and its sequelae. More than half of patients have loss-of-function mutations in ABCC8 or KCNJ11 genes encoding subunits of ATP-sensitive potassium (KATP) channels. Histologically, disease pathology is subdivided into diffuse or focal disease; the latter associated with paternal mutations and somatic loss of maternal heterozygos...

ea0024oc2.3 | Oral Communications 2 (Brief Communications) | BSPED2010

The phenotype of late-presenting congenital hyperinsulinism

Ilangaratne C , Rigby L , Skae M , Flanagan S , Ellard S , Banerjee I , Clayton P , Members NORCHI

Background: Children with hypoglycaemia due to Congenital Hyperinsulinism (CHI) usually present in the neonatal period but late presentations also occur. The phenotype of late-presenting CHI has not been well described.Aim and methods: We have reviewed the clinical course of children (n=22) presenting with CHI after 1 month of age in relation to mode of presentation, rapid KATP genetic mutation analysis, neurodevelopment, clinical progr...

ea0024bc1.2 | (1) | BSPED2010

Knowledge, perceptions and actions of obese paediatric patients

Magee L , Gleeson H , Skae M , Banerjee I , Patel L , Clayton P , Ehtisham S

Introduction: The UK has seen a steady rise in childhood obesity over the last 30 years, with nearly a third of children aged 2–15 now overweight or obese. Childhood obesity represents a significant health burden, costing the NHS many millions of pounds.Aim: The aim of this study was to investigate the knowledge, perception and actions of obese patients at the Royal Manchester Children’s Hospital (RMCH), to guide recommendations for improving t...

ea0024bc1.4 | (1) | BSPED2010

Lessons from Klinefelter syndrome (47,XXY): a common DSD but with significant variation in presentation

Gopal-K J S , Patel L , Ehtisham S , Amin R , Hennayake S , Banerjee I , Clayton P E , Skae M S

Background: Klinefelter syndrome (KS) is the commonest sex chromosomal disorder. Characteristic features include male phenotype with hypogonadism and progressive testicular failure, gynaecomastia and learning difficulties. The association between mediastinal germ cell tumours (GCT-M) and KS is well established, with KS occurring in 20% of GCT-M patients and the reported incidence of GCT-M in KS being 1.5 per 1000 (Nichols, 1991). Genital anomalies are also known to be rarely o...

ea0024p29 | (1) | BSPED2010

Cardiac abnormalities in children with congenital hyperinsulinism (CHI)

Petkar AS , Ciotti G , Rigby L , Patel L , Ehtisham S , Clayton P E , Banerjee I , Skae M , Didi M , Blair J

Congenital hyperinsulinism of Infancy (CHI) can be associated with cardiac problems such as septal hypertrophy and reversible hypertrophic cardiomyopathy (Breitweser et al. 1980, Harris et al. 1992); however, the prevalence and range of cardiac abnormalities in CHI has not been well investigated.Aims and methods: With National Research Ethics Service approval and consent, we retrospectively reviewed the prevalence of cardiac abnormalities in 48 children ...

ea0017oc17 | Diabetes 2 | BSPED2008

The genotype–phenotype relationship in congenital hyperinsulinism of infancy (CHI): the Northern Congenital Hyperinsulinism (NORCHI) Service 2 year experience

Skae M , Ellard S , Blankenstein O , Rigby L , Patel L , Amin R , Didi M , Banerjee I , Clayton P , Hall C

CHI is a disorder of dysregulated insulin release characterised by severe recurrent hypoglycaemia. Mutations in genes encoding the beta-cell sulphonylurea receptor (ABCC8) and inward-rectifying potassium-channel (KCNJ11) are the commonest genetic cause of CHI, followed by that encoding glutamate dehydrogenase (GLUD-1). Histologically, disease pathology is subdivided into diffuse or focal disease; the latter associated with paternal mutations and somatic lo...

ea0017p38 | (1) | BSPED2008

An exploratory investigation into the cognitive profile of children with congenital hyperinsulinism of infancy (CHI)

Rust S , Patel L , Clayton P , Skae M , Banerjee I , Harrison A , Amin R , Rigby L , Hall C

Previous research concerning the cognitive profile of children with CHI has identified a high incidence of significant learning difficulty (Rother et al. 2001, Jack et al. 2003). Both studies report an incidence of 30 to 50% cognitive skills within the learning disability range in both study populations. Furthermore, Rother et al. (2001) suggested that all children investigated demonstrated some form of cognitive difficulty, ranging from learning disabilit...

ea0024oc3.1 | Oral Communications 3 | BSPED2010

Altered Expression of HCN Channels in Patients with Congenital Hyperinsulinism of Infancy (CHI)

Adams L , Skae M , Banerjee I , Hall C , Ellard S , Clayton P , Kippet-Drews P , Drews G , Cosgrove K , Dunne M

Hyperpolarisation-activated cyclic nucleotide-gated channels (HCNCs). are selective for Na+/Ca2+ under physiological conditions and are responsible for the rhythmical electrical behaviour of pacemakers in the heart and brain. Their role in human pancreas has not been reported previously. Congenital hyperinsulinism of infancy (CHI) is an inherited disorder of inappropriate insulin secretion often caused by gene defects in the subunits of KATP ch...

ea0024p26 | (1) | BSPED2010

Stem cell lines derived from patients with congenital hyperinsulinism

Eastwood L E , Shepherd R M , Kim J , Skae M , Banjeree I , Hall C , Clayton P , Cosgrove K E , Dunne M

Congenital Hyperinsulinism (CHI) is primarily a β-cell disorder with an incomplete pathogenesis. The purpose of this study was to generate in vitro models of the disease for the purposes of investigating the relationship between gene defect and β-cell development and function. We obtained post-operative resections of pancreatic tissue from four patients with hyperinsulinism. The tissue was collagenase treated and maintained in cell culture condit...

ea0024p27 | (1) | BSPED2010

Feeding problems and their associated predictive factors in congenital hyperinsulinism of infancy (CHI)

Subbarayan A , Forsythe L , Rigby L , Marks J , Ehtisham S , Patel L , Amin R , Didi M , Blair J , Ellard S , Clayton P , Banerjee I , Skae M

Congenital Hyperinsulinism (CHI), a common cause of persistent hypoglycaemia in infancy can be associated with feeding problems (FP). The extent of FP in CHI is not known. The commonest genetic cause of CHI is mutations in ATP-sensitive potassium (K+ATP) channel genes (ABCC8 and KCNJ11).Aims: To define FP in CHI patients presenting to a regional centre, in relation to medication and K+ATP ...