Endocrine Abstracts

Background: Atypical congenital hyperinsulinism in infancy (CHI-A) represent patients who generally present symptoms of hypoglycaemia later in the neonatal period, are poorly responsive to medical intervention and have no known genetic cause of disease. Our objective was to compare the expression profiles of insulin and somatostatin in islets from patients with CHI-A, diffuse CHI (CHI-D) and age-matched control tissue.Methods and materials: CHI tissues w...

Background: In diffuse CHI (CHI-D) insulin release is uncontrolled due to mutations in the ABCC8/KCNJ11 genes. Increased rates of cell proliferation have also been reported, but the mechanisms responsible for this are unknown. We hypothesized that this may arise as a consequence of failure to terminate proliferation in the neonatal period. Here, we examined the proliferative index (PI) of islet cells in CHI-D patients and compared this with focal CHI (CHI-F) ...

Background/hypothesis: Congenital hyperinsulinism in infancy (CHI) mainly arises from mutations in ATP-sensitive potassium channel genes. However, the expression pattern of defects can be markedly diverse. In diffuse CHI (CHI-D) all islet cells express gene defects, whereas patients with focal CHI (CHI-F) only express defects in a localised region of islet cells due to loss of a maternally-imprinted locus. Here, we examined the properties of a novel population of CHI islet cel...