ESPE Abstracts

Introduction: The envelope protein of Human Endogenous Retrovirus type W (HERV-W-Env) has been shown to be associated with type 1 diabetes (T1D) pathogenesis in adults patients. This protein is expressed in pancreas of T1D patients and it seems to correlate with macrophage infiltrations. In vitro and in vivo studies have demonstrated that HERV-W-Env inhibits insulin secretion and promotes hyperglycemia. Furthermore, HERV could be implicated in other auto-immune disorders. The ...

Background: Achieving adequate hypoglycaemia during the insulin tolerance test (ITT) is important but excessive hypoglycaemia is undesirable. We aim to evaluate factor affecting insulin sensitivity and hypoglycaemia during ITT.Patients and method: 106 children (76 males) who had an ITT (Actrapid 0.1 units/kg) performed between 2009–2013 for evaluation of short stature, poor growth or re-assessment after completion of growth following rhGH therapy. P...

Background: Many children with short stature (defined as height SDS <−2S.D.) have no identified cause for their growth impairment and are classified as either small for gestational age or idiopathic short stature depending on birth size. Whole exome sequencing (WES) is a useful tool to identify new genetic diagnoses in this group. Here we describe a recurrent NDUFB3 mutation in children with intra-uterine growth retardation, short stature and ...

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Background: Glycogen-storage disease type VI (GSD VI) is an autosomal recessive disorder due to deficiency of the liver isoform of phosphorylase resulting in abnormal accumulation of glycogen. Patients typically present in early childhood with growth retardation, hepatomegaly, hypoglycaemia and ketosis. Ketotic hypoglycaemia is a relatively common diagnosis (of exclusion) in children presenting with hypoglycaemia.Case: A 3-year-old girl presented with an...

Introduction: Peroxisomal biogenesis disorders - Zellweger Syndrome Spectrum (PBD-ZWS) are rare disorders involving multiple systems including the central nervous system, adrenals, liver and skeleton but hyperinsulinism is not a recognized association. We present a child with PBD-ZWS due to a novel mutation in PEX1 who developed hyperinsulinaemic hypoglycaemia (HH).Case report: A 7 month old boy presented with recurrent hypoglyc...

Thyroid hormone is crucial for metabolism and development. Cellular thyroid hormone homeostasis requires adequate function of (i) thyroid hormone transporter proteins, (ii) deiodinating enzymes and (iii) nuclear receptors. Thyroid hormone transporters are crucial for cellular uptake of T3 and T4. Over the last years, a number of thyroid hormone transporters have been identified and their physiological relevance has been established. The most well-studied example is MCT8 defici...

Brown adipose tissue (BAT) is a key component of the body's defence against cold challenge and possesses the ability to convert large amounts of chemical energy to heat, conferred by a unique protein, uncoupling protein (UCP)-1, diverting mitochondrial respiration from the production of adenosine triphosphate. In humans, the largest BAT depot is in the supraclavicular region. Sympathetic nervous system stimulation induces glucose uptake into brown adipose tissue, as does i...

Background: Childhood growth is an indicator of health/well-being. Growth monitoring identifies treatable conditions in apparently healthy children and prevents inappropriate referrals. Systematic growth monitoring is not currently a UK priority and growth disorders are frequently diagnosed late.Objective: Develop and test the accuracy of GrowthMonitor, an app which enables families to measure a child’s height at h...