hrp0089rfc3.6 | Diabetes and Insulin 1 | ESPE2018

Treatment Adherence and Weight Loss are Key Predictors of HbA1c One Year after Diagnosis of Childhood Type 2 Diabetes in UK

Candler Toby , Mahmoud Osama , Lynn Richard , Majbar Abdalmonem , Barrett Timothy , Shield Julian PH

Background: Type 2 Diabetes (T2DM) is increasing in childhood especially among females and South-Asians.Objective: To report outcomes from a national cohort of children and adolescents with T2DM 1-year post diagnosis.Subjects and Methods: Clinician reported 1-year follow-up of a cohort of children (<17 years) with T2DM reported through British Paediatric Surveillance Unit (April 2015–April 2016). This followed the same met...

hrp0084fc4.2 | Growth | ESPE2015

A Recurrent Homozygous NDUFB3 Mutation, p.Trp22Arg Causes a Short Stature Disorder and Mitochondrial Protein Complex I Deficiency with a Variable Metabolic Phenotype

Murray Philip G , Alston Charlottle L , He Langping , McFarland Robert , Shield Julian PH , Morris Andrew A M , Crushell Ellen , Hughes Joanne , Taylor Robert W , Clayton Peter E

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 ...