ESPE Abstracts

Background: Autoimmune thyroid diseases are multifactorial diseases with a genetic susceptibility and environmental factors. A potential role of cytotoxic T-lymphocyte-associated protein 4 (CTLA4) gene, Fc receptor-like 3 (FCRL3) gene, Fas apoptotic inhibitory molecule 2 (FAIM2) gene polymorphisms on autoimmune thyroid diseases (AITDs) in children has not been established equivocally yet.Objective and hypotheses: To estimate the association of polymorphi...

Short-chain L-3-hydroxyacyl-CoA (SCHAD, HADH) deficiency is characterized by diazoxide-responsive hyperinsulinemic hypoglycemia in the neonatal or infancy periods. These patients have severe protein (especially leucine) sensitivity. HADH mutations are recessively inherited with less than 50 patients reported so far. The mechanism behind unregulated insulin secretion in SCHAD deficiency is not understood but may involve changes in protein-protein interactions with glutamate deh...

Introduction: Prompt diagnosis in Prader-Willi syndrome (PWS) is important for counselling the family and thus pre-empt the hyperphagic phase of the condition.Objectives: To determine the key diagnostic features of PWS during the perinatal period and hence recommend strategies to ensure early diagnosis.Study design: Retrospective case note review with prospective questionnaire survey of birth details for the affected child and heal...

Background: Cushing's syndrome (CS) is very rare in children and the most common cause is the high doses of glucocorticoids (GC) administered. It is well known that application of potent GCs cause iatrogenic CS (ICS) due to suppressing hypothalamo-hypophyseal-adrenal (HPA) axis and later even adrenal insufficiency (AI). Other side effects of GCs are also seen in these patients.Objective: The aim of this study is to r...

Background: Genetic diversity of mutations in the CYP21A2 gene is the main cause of the monogenic Congenital adrenal hyperplasia (CAH) disorder. On chromosome 6p23.1, the CYP21A2 gene is partially overlapped by the TNXB gene and reside in tandem with their highly homologous corresponding pseudogenes (CYP21A1P and TNXA), which leads to recurrent homologous recombination.Methods and Results: The genetic s...

Background: The Scottish Paediatric Endocrine Managed Clinical Network is committed to providing equity of care and education across Scotland. A key role is the education of health care professionals and how this is delivered. An extensive survey using a Learning Needs Analysis Tool was completed to ascertain learning needs and their delivery across Scotland. This highlighted the desire to have online learning available to health professionals.Objective:...

Background: Noonan syndrome (NS) is a condition caused by pathogenic variants of the genes of the RAS-MAPK pathway. Its clinical manifestations are diverse and include congenital heart disease, short stature, ocular abnormalities, coagulation defects and structural renal anomalies. Our aim was to find out whether the patients with a genetic diagnosis of NS in the West of Scotland were managed according to the Management of Noonan Syndrome guidelines (DYSCERNE)...

Introduction/Aim: Children with Prader-Willi syndrome (PWS) show alterations in infantile, childhood and pubertal growth. Growth Hormone (GH) therapy is recommended due to reported improvements in height velocity (HV) and body composition. The aim was to describe the patterns of growth in PWS and the influence of both changes in clinical practice and GH therapy.Methods: Height SDS (HSDS), BMISDS and HVSDS of children attending a dedicated PWS clinic, 200...

Background: Prader–Willi syndrome (PWS) results from loss of paternally imprinted genes from the 15q11–13 region and causes hypotonia with weight faltering in infancy, followed later by obesity which is classically attributed to hyperphagia.Objective and hypotheses: To determine, where possible, the age at onset of unwanted weight gain (as opposed to actual obesity) in children with PWS attending a specialist clinic.Metho...

Background: Individuals with Down Syndrome are at an increased risk of developing thyroid disease. Given that thyroid disorders represent a preventable cause of neurodevelopmental impairment, early detection and treatment are essential to maximise cognitive abilities in this already impaired population. This service evaluation sought to assess the efficacy of the Down Syndrome Hypothyroid Screening programme in its uptake and subsequent diagnosis of hypothyroi...