Searchable abstracts of presentations at key conferences in endocrinology

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 ...

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...

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...

ea0017oc16 | Diabetes 2 | BSPED2008

Surgical outcomes in congenital hyperinsulinism of infancy (CHI) pre and post the introduction of diagnostic 18Fluoro (F)-DOPA positron emission tomography (PET)-CT scanning

Skae M , Bruce J , Blankenstein O , Jones M , Morabito A , Bianchi A , Rigby L , Patel L , Amin R , Clayton P , Banerjee I , Hall C

In severe CHI which is unresponsive to medical therapy, pancreatic resection is undertaken to prevent further hypoglycaemia from dysregulated beta-cell insulin secretion. Traditionally, 95% subtotal pancreatectomy has been the surgery of choice (Lovvorn et al. 1999), with associated risks of post-operative complications such as lifelong diabetes and malabsorption. Since the introduction of 18F-DOPA PET-CT imaging, clinicians have been able to effectively differentia...