ESPE Abstracts

Background: The association between HNF1A-MODY and vascular complications including stroke has previously been identified in adults but to date there have been no reported paediatric cases published.Description: We present the case of an Eritrean 13-year-old girl, who was admitted with an acute ischaemic stroke, on a background of Diabetes Mellitus (Presumed Type 1) diagnosed the previous year. Aside from being on multip...

MicroRNAs (miRNAs) are small non-coding RNA molecules and play an important role in the post-transcriptional regulation of gene expression and thereby influence important cellular functions. In adipocytes, miRNAs regulate key processes such as differentiation, inflammation, metabolism, and adipokine secretion. Recently, we found that miR-27a is upregulated under proinflammatory conditions in human adipocytes. Thus, our goal was to better understand the function of miR-27a in a...

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...

Background: In a population of a community-based setting (BMISDS range −3.5 to +4.1), there is a negative linear correlation between childhood BMISDS and pubertal height gain, together with earlier onset of pubertal growth with higher BMISDS for both sexes (1).Objective: To investigate the impact of BMI in childhood on the pubertal pattern of growth for obese children in a clinical setting.Met...

Background: Controlling eating rate may be a mechanism for reducing calorie consumption. We need to understand the physiological basis of this to design effective paediatric interventions.Objective and hypotheses: This study investigated the effect of eating rate during lunch on post-meal neural response (fMRI), satiety hormone levels, appetite ratings (VAS), meal enjoyment, memory for recent eating and snack consumption.Method: Tw...

Background: The well-documented increased cardiometabolic risk in haematopoietic stem cell transplantation and total body irradiation (HSCT/TBI) survivors is under-recognised using standard (International Diabetes Federation (IDF)) metabolic syndrome (MetS) criteria. This is defined as the presence of central adiposity using increased waist circumference (WC) or BMI, (often not abnormal in HSCT/TBI survivors despite increased central adiposity), plus additional features includ...

Background: Nutritional excess of vitamin A, a precursor for retinoic acid (RA), causes premature epiphyseal fusion, craniosynostosis, as well as light-dependent retinopathy. Similarly, homozygous loss-of-function mutations in one of the major RA-metabolizing enzymes CYP26B1 causes advanced bone age, premature epiphyseal fusion, and craniosynostosis. We studied a patient with markedly accelerated skeletal and dental development, retinal scarring, and autism-spectrum disease.</...

Introduction: Rapid-onset obesity with hypoventilation, hypothalamic dysfunction and autonomic dysregulation (ROHHAD) is a rare syndrome that presents during early childhood and is associated with high morbidity and mortality. 40-50% of patients have neural crest tumours, most commonly ganglioneuromas or ganglio-neuroblastomas denoted by the suffix ROHHAD(NET) in a subset of patients. Currently, there is no specific diagnostic biomarker available and diagnosis...

Introduction: Fanconi anemia (FA) is a rare genetic disease that presents with aplastic anemia. Around 60% have short stature (SST), with a mean height of -2.2 SD. However, studies assessing the etiology of SST not having reached relevant conclusions.Aim: Our aim was to evaluate the clinical features and endocrine status in relationship to SST in patients with FA.Methods and Patients: A cross-secti...

Background: The assignment to type 1 diabetes mellitus (T1DM) can be confirmed by the determination of diabetes-specific autoantibodies. Five different antibodies can be determined. The determination of several antibodies is more expensive than the determination of a single antibody. In times of scarce resources, the sequential determination of antibodies could save costs. The aim of this study was to determine the frequency of antibodies and their age and gen...