ESPE Abstracts

Background: Non-alcoholic Fatty Liver Disease (NAFLD) is a frequent complication of obesity in both adults and children and there is an alarming increase in prevalence of both. Studying of risk factors for NAFLD in children and adolescents might help to select vulnerable groups to start an early intervention.Objectives: The aim of our study was to detect the prevalence of NAFLD in pediatric obese patients (0-18.9 years, ...

Background: The SGLT2 (Sodium-Glucose Cotransporter 2) protein is responsible for the majority of glucose reabsorption in the proximal tubule. Mutations in SLC5A2, encoding SGLT2, have been first described in 2002, leading to familial renal glucosuria (FRG). Herein we describe the clinical course of an 11-year-old boy in whom a compound heterozygous SLC5A2-mutation was detected, who presented with glucosuria and vomiting with a suspected diagnosis of diabetes....

Introduction: Diagnosis of central diabetes insipidus (CDI) remains challenging. Water deprivation test and hypertonic saline infusion, as established diagnostic tests, are mentally and physically demanding for patients. Copeptin response to arginine-stimulation and insulin tolerance test (ITT) has been shown to be a putative parameter in the diagnosis of CDI in adults, but data are lacking for children and adolescents.Methods:</...

Background: Paediatric pituitary adenomas are rare and mostly benign disorders which may secrete pituitary hormones. Prolactinomas account for half of all pituitary adenomas (PROLA), followed by non-secreting adenomas (20–40%; incidentalomas), adrenocorticotropic-hormone secreting adenomas (10–30%; ACTHA) and growth-hormone-secreting adenomas (5–15%; GHA).Methods: In this single-centre retrospective analysis clinical, biochemical and radio...

Background: Prediction of adult height is a standard procedure in pediatric endocrinology, but it is associated with considerable interrater variability.Objective and hypotheses: To compare the new adult height prediction (PAH) method by automated bone age determination (BoneXpert™) with the conventional PAH method by Bayley Pinneau (BP) based on bone age determination according to Greulich & Pyle. Furthermore, to assess measures of bone health ...

Background: Depending on age, needs and preferences in insulin therapy strongly differ between children and adolescents with type 1 diabetes (T1D).Objective and hypotheses: To analyse trends in insulin regimen and type of insulin used over the last two decades in three age-groups of pediatric patients with T1D from Germany/Austria.Method: 63 967 subjects (<18 year of age) with T1D documented between 1995 and 2014 from the &#145...

Background: Smartphones are becoming increasingly popular and powerful across the globe, which, in turn, has provided unforeseen opportunities in the digital health space. The increased capabilities of smartphones have allowed the incorporation of Augmented Reality (AR) capabilities that merge input from their cameras with additional, augmented annotations and representations. While there has been research on the use of AR in managing paediatric diabetes,1 to ...

Background/Objective: 17bHSD3D is a rare genetic disorder that leads to disorders of sex development (DSD) in 46,XY patients. Phenotype at birth ranges from unsuspicious female genitalia to micropenises. Besides molecular genetic testing no reliable lab parameters have been established for pre-identifying patients through basal steroid-levels or hCG-testing. This bares the risk of under-, mis- or late diagnosis. Further, little research has been performed on psychological well...

Background: Early diagnosis of growth disorders and initiation of GH therapy at a younger age improves clinical outcomes.Aims and objectives: To analyse time trends in baseline parameters at GH treatment start (2006 – 2014) in short children with GHD, SGA and TS from Germany and Czech Republic enrolled in NordiNet® IOS (NCT00960128).Method: Baseline data (chronological age, height, weight, BMI, GH dose) from pa...

McCune Albright Syndrome (MAS, OMIM # 174800) is a rare congenital sporadic disorder with an estimated prevalence ranging from 1 in 1,00,000 to 1 in 100,000. MAS is caused by a post-zygotic somatic activating mutation of the GNAS1 gene resulting in an increased GSα protein signaling leading to hyperfunction of glycoprotein hormone receptors, autonomous cell proliferation, and hormonal hypersecretion. The mosaic constitutive activation of this signal transducer is clinical...