Endocrine Abstracts

Background: Congenital hyperinsulinism (CHI) is one of the commonest causes of recurrent hypoglycaemia due to excess production of insulin in infancy and results in neurological impairment in a third to a half of patients. The treatment of CHI is often complex and complicated by side effects; the medium-term effects of such treatment are not known.Aim: To describe five year clinical outcomes in a cohort of infants with CHI.Methods:...

Background: Congenital Hyperinsulinism (CHI) is characterised by dysregulated and excess secretion of insulin leading to severe hypoglycaemia. Monitoring of glucose levels is essential in this condition as prolonged hypoglycaemia can cause life-threatening complications such as permanent neurological impairment. Interstitial glucose monitoring by continuous glucose monitoring (CGM) devices can identify nocturnal hypoglycaemia retrospectively through data analysis. Analysis can...

Introduction: Congenital hyperinsulinism (CHI) is a disesase of severe hypoglycaemia, often due to in mutations in ABCC8/KCNJ11. Sirolimus, an mTOR inhibitor, has been reported to be successful in CHI patients, but the evidence is limited. We have aimed (i) to review the efficacy and safety profile of sirolimus, (ii) to assess the role of mTOR signalling pathways in CHI, (iii) to assess the impact of sirolimus in CHI pancreatic tissue.Methods: P...

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...

Introduction: Generalised lipodystrophy is clinically characterised by lipoatrophy, hepatomegaly, hypertriglyceridemia, insulin resistance and acromegaloid features. It is recognised that diencephalic syndrome is a rare presentation of hypothalamic tumours in infants and young children. Children with this disorder have profound emaciation and generalised loss of subcutaneous fat, growth acceleration, hyperkinesia and euphoria. Hypothalamic tumours, particularly pilocytic astro...

Background: For children with congenital hyperinsulinism (HI), detection and avoidance of hypoglycaemia is the cornerstone of clinical management and poses significant demands on families. Standard of care remains intermittent fingerprick monitoring but the lack of predictive information has resulted in continuous glucose monitoring (CGM) increasing in popularity. Accuracy is suboptimal in this group and family feedback identifies various barriers to use. We a...

Background and objective: Neonatal hypoglycemia is common and frequently self-resolving, although rare due to congenital hyperinsulinism are associated with high risk of brain injury. The time period for neonatal hypoglycemia has been described in several studies. It is unknown if low hypoglycemia thresholds (<2.0 mmol/l) lead to missed cases of persistent hypoglycaemia. We aimed to ascertain if lower hypoglycemia threshold risked missing persistent forms of hypoglycemia i...

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...

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...

Background: Congenital Hyperinsulinism in Infancy (CHI) is characterised by inappropriate insulin release from islet β-cells. We currently attribute hypoglycaemia to β-cell dysfunction because of defects in the ion channel genes ABCC8 or KCNJ11. However, the CHI pancreas is also associated with the inappropriate expression of foetal-like transcription factors and enhanced cell proliferation. We hypothesised that islet cell differentiation and neogen...