Endocrine Abstracts

Introduction: Paediatric hypoglycaemia is a relatively common medical emergency. In order to allow identification of the underlying cause, investigations need to be performed urgently prior to treatment being given. If done correctly this can save the need for future investigations. A ‘hyposcreen’ costs ~£450 so careful consideration is needed to ensure correct patient selection, as inadequate investigations have further cost and patient safety implications....

Background: Children with hyperinsulinaemic hypoglycaemia (HH) are at a high risk of brain injury, while children with ketotic hypoglycaemia (KH) are believed to be neurologically normal. Hippocampus is known to be susceptible to hypoglycaemia, and is one of the key structures in the memory system. Our objective was to ascertain if children with HH sustain greater hippocampal injury and memory deficits in comparison to children with KH.Methods: Twenty on...

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...

Background: Many young people have inadequate follow up because they lose contact with adult care following transfer from paediatrics. There is a need to adapt communication interventions to help young people to determine and enact their preferred involvement in consultations with health professionals.Objective: To develop interventions to support communication with young people in endocrine care and to assess the feasibility of implementation in routine...

Introduction: In congenital hyperinsulinism (CHI) hypoglycaemia results from a dysregulation of insulin secretion. We hypothesised that other pancreatic hormones may also be dysregulated in this condition.Objectives: To proof the applicability of Luminex Multiplex method to measure pancreatic hormones (insulin, C-peptide, glucagon, amylin and PP) in the paediatric age. To elucidate the fasting response of these hormones in children with different forms o...

Introduction: Congenital hyperinsulinism (CHI), is the most frequent cause of persistent hypoglycemia in infancy. Mutations in the ABCC8 gene are responsible for 40–50% of CHI cases. Its management can be extremely complicated. The main goal of the treatment is to maintain normoglycemia, since hypoglycemia during infancy can have severe neurological consequences. Herein, we report 8 year follow up of twin patients who were diagnosed with CHI at neonatal period due to SUR1...

Introduction: Congenital hyperinsulinism (CHI) results from unregulated insulin secretion from pancreatic β-cells, which leads to persistent hypoglycaemia. Mutations in nine different genes are reported and phenotypic variability exists both within and between the genetic subgroups. Variable penetrance has been described in some families with the same mutation; for example HNF4A mutations cause neonatal hypoglycaemia and/or maturity onset diabetes of the young (M...

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: Cystic lymphangiomata are rare benign tumours of childhood resulting from an abnormal development of the lymphatic system, most of which occur in the head and axillary region, referred to as cystic hygromas. Lymphangioma arising in the abdomen are particularly rare and the symptoms are variable. They usually affect boys and can be associated with specific genetic abnormalities, most notably Turners syndrome.Case: We report the case of a 14-ye...

Introduction: Bedside blood ketone measurement has often been used in the management of diabetic ketoacidosis. However there is no available data on its reliability in the evaluation of hypoglycaemia in children. We aimed to assess the reliability of bedside ketones (beta-hydroxybutyrate (BHB)) in the evaluation of hypoglycaemia in children.Methods: We collected data on 20 children who had paired measurement of bedside and lab BHB at the end of a control...

Introduction: Isolated postprandial hyperinsulinaemic hypoglycaemia (PPHH) in the paediatric age has been exceptionally reported in the literature.Objective: To describe the clinical and biochemical characteristics as well as the management of a cohort of children with isolated PPHH followed at a single tertiary paediatric centre.Subjects and methods: Six children (three males) were collected. The clinical characteristics, diagnosi...

Background: Congenital hyperinsulinism (CHI) is the result of unregulated insulin secretion from the pancreatic β-cells leading to severe hypoglycaemia.1 Diazoxide is effective in virtually all forms of CHI except in those due to recessive (and some dominant) inactivating mutations in ABCC8 and KCNJ11 and in patients with focal CHI.2 We report a case of CHI with acute kidney injury secondary to diazoxide.Case ...