Endocrine Abstracts

Background: Animal studies have demonstrated relationship between Vitamin D and glucose homeostasis. There is paucity of evidence examining the relationship between the glycemic control in children with type 1 diabetes mellitus (T1DM) and vitamin D status.Objective: To determine the effects of vitamin D status on the glycemic control in children and adolescents with T1DM.Methods: Retrospective data were collected on 348 children an...

Background: Early diagnosis of girls with turner syndrome (TS) is essential to provide timely intervention and support. The screening guidelines for TS suggest karyotype evaluation in patients presenting with short stature, webbed neck, lymphoedema, coarctation of aorta or >two dysmorphic features (nail dysplasia, high arched palate, short fourth metacarpal or strabismus).Objectives: The aim of the study was to determine the age and clinical features...

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...

Introduction: Pallister–Hall syndrome (PHS) is characterized by a spectrum of anomalies which includes polydactyly, hypothalamic hamartoma, laryngotracheal cleft, bifid epiglottis, imperforate anus, and renal abnormalities. Hypoplastic cochlea is an infrequently reported association of PHS. The association of PHS with hyperinsulinaemic hypoglycaemia (HH) has not been previously reported in the literature.Case report: A baby girl was born by elective...

Background: Hypocortisolaemia is common in neonates1 and infants following cardiac surgery.2 In critically ill children with other pathologies, hypocortisolaemia may result from accelerated cortisol metabolism and reduced protein binding. However, the timing and frequency of normalisation of cortisol concentrations following infantile critical illness is poorly described.Objective: To describe the natural history of hypocortisolaemi...

Background: Disorders of sexual development (DSD) are estimated to occur in every 1 in 4500 births. This project builds upon previous work by the authors to explore the knowledge and management of paediatric junior doctors in a single deanery. The majority of junior doctors stated that they would seek the advice and explanation of paediatric consultant. We therefore attempted to qualify the knowledge and management strategies of the region-wide consultant body with regards to ...

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: Neonatal diabetes mellitus is a rare condition with an estimated incidence of 1 in 400 000 live births in the UK population. Half of these cases will have permanent neonatal diabetes mellitus (PNDM). We report a homozygous missense mutation (R397L) in the glucokinase (GCK) gene which is associated with PNDM, in an infant from a consanguineous Asian family.Case report: The baby was born with a birth weight of 1.68 kg at 38 weeks gesta...

Introduction: Early onset diabetes mellitus and poor glycaemic control can predispose to various long-term complications. NICE recommends regular assessment starting at 12 years of age to diagnose micro/macro vascular complications and neuropathy for appropriate management. Rare undiagnosed metabolic disorders could pose diagnostic and management challenges. We report an unusual presentation of a rare metabolic disorder in an adolescent with type-1 diabetes mellitus (T1D)....