Endocrine Abstracts

Introduction/Aim: Congenital hyperinsulinism (CHI) is a cause of severe hypoglycaemia in infancy. Treatment of diazoxide unresponsive patients includes the use of somatostatin analogues (octreotide given either as four s.c. injections daily or via a pump). We aimed to evaluate the use of a long acting somatostatin analogue (Lanreotide) in children with CHI, switching them from daily oral diazoxide or s.c. Octreotide injections to 4 weekly Lanreotide injections.<p class="ab...

Introduction: Diffuse congenital hyperinsulinism (CHI) is a major cause of severe hypoglycaemia. One treatment option is near-total pancreatectomy, which carries a risk of diabetes mellitus (DM) and pancreatic exocrine insufficiency.Objective: We report our centre’s experience on 36 consecutive medically unresponsive diffuse CHI children managed with near-total pancreatectomy.Methods: Following near-total pancreatectomy, these...

Introduction: Hyperinsulinaemic hypoglycemia (HH) represents the most common cause of hyperinsulinism in neonates, often termed as congenital hyperinsulinism of infancy (CHI). CHI is characterised by inappropriate raised insulin secretion from the pancreatic β-cells in relation to blood glucose concentration. Insulin suppresses NEFA and BOHB production. Neurological damage is a known risk associated with hyperinsulinaemic hypoglycaemia (HH).Aim: To ...

Background: Diabetes mellitus (DM) is one of the commonest chronic disorders of children, and Type 1 DM is the most frequent form of diabetes in children. Rarely DM is associated with other systemic features. DM and sensorineural deafness (SD) are features of rare syndromes like Wolfram syndrome, Rogers syndrome and Mitochondrial DM. Wolfram syndrome (also known as DIDMOAD syndrome) is caused by los of function mutations in the WFS1 gene and the clinical features incl...

Introduction: CHARGE syndrome is a complex multisystem disorder with characteristic congenital malformations. The spectrum of endocrine abnormalities associated with CHARGE syndrome is not well defined. We report the experience of our tertiary endocrine centre in the management of these patients.Methods/study design: Patients with CHARGE syndrome were identified from the endocrine clinic database and information was gathered retrospectively from medical ...

Background: Intra-uterine growth restriction (IUGR) is a known risk factor for the development of hyperinsulinaemic hypoglycaemia (HH). The phenotype of a large cohort of neonates who develop HH following IUGR has not been studied previously.Aim: To characterise the clinical aspects of a cohort of neonates with IUGR who developed HH.Methodology: Thirty-nine patients with IUGR (defined as birth weight <10th centile) who presente...

Background: Congenital hyperinsulinism (CHI) is a clinically heterogeneous condition. Mutations in seven genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1 and HNF4A) are known to cause CHI.Aim: To characterise the clinical and molecular aspects of a large cohort of patients with CHI.Methodology: 300 patients with biochemically confirmed CHI were recruited. Detailed clinical information was collected prior to geno...

Background: PHID syndrome has been recently described as a unique syndrome characterised by pigmented hypertrichosis; non immune mediated insulin depended diabetes mellitus (DM). Other associated features of the syndrome include pancreatic exocrine insufficiency, short stature and hypogonadism.Aims: To identify the genetic basis of PHID syndrome in six patients from five unrelated families and to characterise the endocrine features associated with this s...

Objective: CHI is the most frequent cause of severe hypoglycaemia in infants. Two distinct anatomical forms have been described which require different therapeutic strategies. We evaluated the predictive value and accuracy of integrated [18F]FDOPA-PET/CT as a new tool in identification of focal lesions in an observational study.Patients and methods: From 2005 to 2007, 73 infants and children from the UK (30) and Germany (42) with CHI were exam...

Background: Congenital Hyperinsulinism (CHI) is genetically unexplained today in up to 50% of the patients with persistent or recurrent disease. The uncoupling protein 2 (UCP2) gene is a candidate gene for medical-responsive CHI, since knock out studies have shown that UCP2 deficiency leads to increased glucose-stimulated insulin secretion.Patients and methods: In a large series of 142 patients with transient, persistent or recurrent CHI, we examined for...