ESPE Abstracts

Results: During the years of this study, the prevalence of NB reported as suspected with CH was 1:1220 NB, showing a stable trend on the linear tendency analysis; when adjusted for cases with confirmed high values of TSH in umbilical cord measurement, the prevalence is 1:3041 NB. Regarding the demographic data of the patients analyzed, it was found 54% were men and 46% women. Of the total CH cases with a reported weight, 20% weighted less ...

Introduction: Childhood obesity is continuing to increase worldwide resulting in a rise in the number of individuals with complications secondary to obesity. Non-alcoholic fatty liver disease (NAFLD) is seen in both adult and paediatric populations and if not treated appropriately is potentially life-threatening, as it may progress to advanced fibrosis, cirrhosis or hepatocellular carcinoma. NAFLD has now become the most common indication for liver transplant ...

Background: Neuroblastoma (NBL) is the most common extra cranial solid tumor in children. Endocrine adverse effects after treatment for NBL have been reported of which mainly caused by treatment with 131meta-iodobenzylguanidine ([131I]MIBG) or with alkylating agents and may consist of thyroid disorders, gonadal insufficiency or short stature. Due to recent developments patients are increasingly treated with [177Lu]Lu-DOTATATE peptide receptor radionuclide ther...

Objectives: Hearing loss and ENT problems are frequently seen in children with Achondroplasia. Current international consensus guidance recommends audiological assessment before the age of one year and thereafter in childhood in presence of speech delay, hearing difficulties or features of middle ear effusion. In January 2019, we began a programme of annual hearing screening for children with Achondroplasia residing in Glasgow who attend the Complex Bone Clini...

Introduction: Prader-Willi Syndrome (PWS), a common syndromic form of childhood obesity, is characterized by failure-to-thrive during infancy followed by progressive hyperphagia and obesity in childhood. The pathogenesis of hyperphagia and weight-gain in PWS is poorly understood and management strategies have had variable and limited success. Several studies support an etiological contribution of dysbiotic gut microbiota in the metabolic derangements of obesit...

Introduction: Pubertal growth is hormone dependent. The anthropometric (height, weight) and sexual (Tanner stage (TS)) changes are accompanied by growth in foot length. However, the relationship between changes in foot length and other anthropometry remains unclear. Our aim was to determine how changes in foot length relate to growth parameters (height and weight), self-rated TS and serum sex steroids.Methods: We used data from the Adolescent Rural Cohor...

Background: Prader orchidometry has been the standard method for evaluating testicular size. As this technique is subjective and tends to overestimate the testicular volume, ultrasound has been proposed as a more reliable method.Objective: To evaluate the intra- and inter-observer agreement of ultrasound measurements of testicular volume and comparison with Prader orchidometry.Materials and methods: Length, width and depth of the r...

Background: BRAF is a component of the RAS/MAPK signalling pathway; germline mutations in components of this pathway are associated with congenital abnormalities such as Cardio-Facio-Cutaneous (CFC), Noonan and Costello Syndromes. These syndromes, known as RASopathies, are characterised by variably penetrant central nervous system, cardiac and facial abnormalities. Importantly, short stature and delayed puberty have been associated with these syndromes, as have featur...

Background: Congenital Hyperinsulinism in Infancy (CHI) is characterised by inappropriate insulin release. We currently attribute hypoglycaemia to β-cell dysfunction because of defects in the ion channel genes ABCC8 or KCNJ11. However, the CHI pancreas is also associated with inappropriate expression of foetal-like transcription factors and enhanced cell proliferation.Hypothesis: As the CHI pancreas bears similarities to the foetal pancreas, we hypo...

Background: Congenital hyperinsulinism in infancy (CHI) is associated with inappropriate insulin release from β-cells. This is causally linked to defects in the ion channel genes ABCC8 and KCNJ11 regulating insulin, but little is known about the metabolic support for sustained insulin exocytosis.Objective and hypotheses: We hypothesised that inappropriate insulin release in CHI would require sustained ATP generation by enhanced mit...