Endocrine Abstracts

NES2Y cells were derived several years ago from a patient following surgery for Congenital Hyperinsulinism (CHI). These cells have the inductive capacity to form insulin-secreting cells, but they are largely uncharacterized. The purpose of this study was to examine the expression and function of the ATP-binding cassette protein ABCG2 and to characterize the cells for their expression of markers of Side Population (SP) progenitor cells and Stellate Cells (SC). Cells were mainta...

Delay in diagnosis of adrenal insufficiency is common. About 47% of patients have symptoms for over 1 year and 20% for over 5 years before diagnosis. Autoimmunity is the most common aetiology for Primary Adrenal Insufficiency (PAI) in developed countries. But up to 10–20% of PAI could be due to TB.We present an interesting case of 42 year old Afro Caribbean male with isolated adrenal TB. He had 2 year history of nonspecific illness including reduced...

Introduction: To prevent neurological damage caused by congenital hyperinsulinism (CHI), hypoglycaemia must be avoided and treated promptly. Education of parents, carers and families of patients with CHI (PCFs) about the causes and consequences of CHI may help to reduce severity of hypoglycaemia due to earlier correction of blood glucose levels. We aimed to determine whether video animations could be used to improve understanding of CHI among PCFs, and the acceptability of thi...

Introduction: Focal congenital hyperinsulinism (F-CHI) is caused by dual-hit pathology, comprising a paternally-inherited ABCC8/KCNJ11 mutation and somatic loss of the maternal allele at chromosome 11p15. This leads to dysregulation of insulin secretion and β-cell overgrowth with a focal domain.Objectives: To compare the proliferative index (PI) of the F-CHI lesion and non-lesion pancreatic tissues to age-matched control pancreata and insul...

Hyperinsulinism in Infancy (HI) is a potentially-lethal condition of neonates and during early childhood. For many years the pathophysiology of this disorder was unknown. Recent advances in genetics, histopathology and molecule physiology have now revealed the causes of HI in a large cohort of patients. This review focuses upon the relationship between the basis of HI and current treatment options. From defects in ion channel subunit genes to lesions in the control of pancreat...

Introduction: Parents of children with complex diseases require easily understandable information about their disease to improve health outcomes. Improved disease understanding will also aid shared decision making between clinicians and families. Congenital hyperinsulinism (CHI) is a rare and complex disease of hypoglycaemia associated with significant neurodevelopmental morbidity for which online video-sharing information resources are available. The utility of such informati...

Background: Congenital hyperinsulinism (CHI) can cause severe hypoglycaemia with consequent adverse neurodevelopment. Continuous glucagon infusion (CGI) through intravenous and subcutaneous routes has been utilised to achieve glycaemic stability, but the efficacy has not been reported systematically in a CHI cohort.Aim: We aimed to investigate the efficacy and safety profile of CGI in the management of hypoglycaemia due to CHI.Meth...

Diazoxide is an agonist of ATP sensitive K+ (KATP) channels in beta-cells and is used in the treatment of hyperinsulinism caused by insulinomas or Hyperinsulinism in Infancy (HI). The responsiveness of patients to diazoxide is highly variable and complicated by side-effects which include hypertension and hypertrichosis. The aim of this study was to examine the actions of a novel benzothiadiazine-derivative, BPDZ-154, on beta-cell KATP channels and insulin release. W...

Voltage-gated calcium channels (VGCC) play a fundamental role in the control of insulin secretion from pancreatic B-cells since they govern rises in cytosolic Ca2+ in response to depolarization-dependent agonists, such as glucose. Here, we have examined the function and expression of VGCC in human B-cells. We isolated tissue from patients with B-cell adenoma (AD) and Hyperinsulinism in Infancy (HI) following surgery and used transplantable human islets as controls. ...

Background: Congenital hyperinsulinism of infancy (CHI) is the most common cause of severe hypoglycaemia in children. CHI arises from mutations in ion channel genes (ABCC8/KCNJ11), which lead to inappropriate insulin secretion. CHI is also associated with increased cell proliferation and altered islet cell development. The aim of this study was to investigate the composition of the islet capsule in CHI and to relate this to the organisation of islet cells.</p...