Endocrine Abstracts

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 ...

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...

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 ...

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...

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...

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...