ESPE Abstracts

Objectives: Subclinical hypothyroidism (SH) is the most common thyroid abnormality in Down Syndrome (DS) children (25-60%); its etiology remains still not completely clarified. Aim of this prospective multicenter study was to evaluate prevalence and natural course of autoimmune and non-autoimmune SH in a large cohort of DS children and adolescents.Methods: The study population included 101 DS patients with SH (TSH 5-...

Adeno-associated virus (AAV) gene therapy reached the maturity and a liver-targeting approach is currently used as a replacement treatment for rare hepatic and muscular diseases. X-linked hypophosphatemia (XLH) is a rare disease associated with hyperfunction of fibroblast growth factor 23 (FGF23) in bone and characterized by severe skeletal deformities and short stature. The current medical therapies for XLH requires life-long repeated treatment presenting major limitatio...

Introduction: The European Registries for Rare Bone and Mineral Conditions (EuRR-Bone) were created in collaboration with the European Reference Network on Rare Bone Conditions (ERN-BOND). EuRR-Bone collects data using 2 platforms: e-REC, a tool that captures the occurrence of bone and mineral conditions, and the Core Registry which collects a set of Core Data Elements as well as longitudinal patient and clinician reported outcomes in condition specific module...

Background: Foramen magnum stenosis (FMS) is a life-threatening complication in children with achondroplasia (ACH) which may require cervicomedullary decompression (CMD). There is no evidence if FMS and CMD affects growth in children with ACH.Aim: To evaluate the impact of FSM and CMD surgery on anthropometric measurements in children with ACH.Methods: Sixty-five patients with ACH ...

Background: Cerebral infarction (CI) is a known vascular complication following treatment of suprasellar tumors. The purpose of our study was to determine the incidence of cerebral infarction (CI) in a cohort of 244 German childhood-onset craniopharyngioma (CP) patients recruited between 2007 and 2019 with a high degree of completeness in the prospective, randomized trial KRANIOPHARYNGEOM 2007 (Clinical Trial No. NCT01272622). Up to now, risk factors for CI, i...

Objectives: No validated achondroplasia (ACH)-specific patient reported outcome (PRO) or clinician-reported outcome (ClinRO) measures are available. A detailed review of generic PRO and ClinRO measures was performed to select relevant tools for further evaluation in a qualitative study.Methods: Published literature describing medical challenges and impacts among children with ACH was reviewed to identify important concep...

Introduction: Diabetic ketoacidosis (DKA) is a potentially fatal hyperglycemic emergency primarily associated with type 1 diabetes mellitus (T1D). The association between DKA and severe hypertriglyceridemia has already been previously discussed with a prevalence ranging between 7.1%-25%, with pancreatitis present in the majority of cases. Epidemiological data in the pediatric age are scarce and not well established. Its etiology is not yet fully known. The &qu...

Background: Insulin resistance (IR) plays a key role in the pathogenesis of type 2 diabetes (T2D). In neurologically impaired (NI) children unfavorable cardio-metabolic risk profile with high prevalence of IR has been reported. We evaluated the prevalence of T2D in NI children and adolescents, in order to define if a dedicated glucose monitoring may be recommended in these subjects.Patients and Methods: We retrospectivel...

Background: Patients with Turner Syndrome (TS) are at high risk for congenital heart disease (CHD), aortic dilatation and dissection with increased mortality and morbidity. Thoracic gadolinium-enhanced MRI angiography allows clear imaging of all great vessels and revealed a spectrum of silent vascular anomalies (VA), both venous and arterial, undetected at Echocardiography.The aim of this study is to retrospectively evaluate the prevalen...

Objective: Allostatic load (AL) refers to the physiological response that occurs in chronic stress burden, Excessive weight gain is an important source of physiological stress promoting chronic low-inflammation state detrimental for health. We estimated AL score among a pediatric population, in order to define a correlation between cumulative biological dysregulation and excess weight.Methods: We enrolled 164 children an...