ESPE Abstracts

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: Growth hormone deficiency (GHD) in children is a rare condition. It may be idiopathic or may develop as a consequence of congenital or acquired organic pathology of the hypothalamic-pituitary axis. GHD can be partial or part of a combined pituitary deficiency. Brain magnetic resonance imaging (MRI) is very useful in establishing the etiology of GHD and predicting its severity.Study aims: To investigate the re...

Background: In 2011, nationwide growth charts were introduced, replacing different regional references (ZLS, Prader 1989; Sempé 1979 and, for BMI only, Kromeyer 2001).Objective and hypotheses: The aim was to examine the influence of new growth charts (WHO 2010) on the prevalence of nutrition- and growth-related disorders compared the ‘old’ references.Method: 6007 anonymised weight and height datasets of children meas...

Background: Hashimoto thyroiditis (HT) is part of the spectrum of autoimmune thyroid diseases and is characterized by the destruction of thyroid cells by various cell- and antibody-mediated immune processes.Objective and hypotheses: The aim of this study was to evaluate clinical and laboratory findings and determine the prevalence of celiac disease (CD) in children with HT.Method: A total of 80 patients with positive anti-thyroid a...

Background: Although multiple imprinting defects have been found by genetic analysis in a subset of patients with Beckwith–Wiedemann Syndrome (BWS), very few patients have been described with both genetic and clinical signs and symptoms of multiple diseases caused by imprinting defects.Methods: Methylation analysis of the KCNQ1OT1 gene was performed by Southern blot, methylation analysis of the GNAS region was done by MLPA.<p class="abs...

Silver-Russell syndrome (SRS) is an epigenetic disorder characterized by severe intrauterine and postnatal growth retardation and typical dysmorphic features. The most common genetic abnormalities are 11p15 ICR1 loss of methylation, (11p15 LOM) and maternal uniparental disomy of chromosome 7 (mUPD7). There is little information on cognitive development in SRS patients and no neuroradiological studies are available so far. Global developmental delay and requirement for speech t...

Background: Postoperative effect of music listening has not been established in pediatric age.Objective and hypotheses: The purpose of this study is to better understand the benefits of music on postoperative distress and pain in Pediatric Day Care Surgery.Methods: Forty-two children admitted for minor or intermediate surgery, were enrolled in this study. Patients were randomly assigned to the ‘music-group’ (music interve...

Background: Short stature caused by point mutations or deletions of the short stature homeobox (SHOX) gene (SHOX haploinsufficiency, SHI) is a registered indication for growth hormone (GH) treatment. Patients with a SHOX enhancer deletion (SED) have a similar phenotype, but their response to GH is unknown. It is uncertain if duplications of SHOX or its enhancer (SDUP) can cause short stature.Objective and hypotheses: To describe the clinical characterist...

Background: Heterozygous pathogenic variants in the ACAN gene underlie disproportionate short stature with characteristically accelerated bone age (BA) maturation and/or osteochondritis dissecans (OD)/early-onset osteoarthritis (OA).Objective: To describe the phenotypic spectrum and assess the response and safety of growth hormone (GH) treatment in children with a heterozygous pathogenic ACAN variant.</...

Background: ALS deficient (ALS-D) patients present severe IGFI and IGFBP3 deficiencies and variable degree of growth retardation. Heterozygous carriers for IGFALS variants, ALS-D relatives or a subset of ISS children, have levels of IGFI, IGFBP3 and ALS intermediate between ALS-D and wildtype (WT) subjects. This supports that IGFALS gene variants may affect ALS synthesis, secretion and/or function and could be responsible for the observed phenotype.<p cla...