ESPE Abstracts

Background: Virtual environments have proved to be successful for educational purposes in different fields. Multimedia applications might be used to consolidate and internalize informations and behavioral strategies in type 1 diabetic children.Aim: In the last years our Diabetology Division and the Department of Informatics co-created many multimedia applications (edutainments, virtual environments, role serious games, electronic diary smartphone apps, a...

The new care paradigm for DSD promoted by the Chicago Consensus of 2005 raised many psychological challenges, the most important being the way decisions regarding the sex of rearing and diagnosis communication are made. The traditional care paradigm, sustained by a binary sex categorization, suggested that for newborns, the decision about the sex of rearing should be made as soon as possible and no later than 18 months of life and that little should be said to the involved per...

Background: French health authorities have developed a national program to organize outpatient care networks for the prevention and management of obesity in children and adolescents (Réseau de Prise en Charge de l’Obésité Pédiatrique (REPOP)). To date, REPOP Ile-de-France has more than 250 primary care physicians with dietitians, nurses, educators, and psychologists trained in the management of childhood obesity as part of a standard care pathway, work...

Introduction: Adrenocortical tumors are very rare in children, with a prevalence of just 0.3 cases/million/year. Autonomic hormone production by adrenal cortical tumors may cause peripheral precocious puberty.Case report: A 4-year-old boy was presented by his parents because of pubertal behavior with aggressive features and a significant increase in the size of the penis. The parents also noticed a strong growth spurt and sweat odor. The boy had a good g...

Mandatory lockdown during COVID 19 pandemic obstaculized access to medical attention. Newborn screening (NBS) for congenital hypothyroidism (CH) in Buenos Aires province has been obligatory since 1995 and performed sustainedly. CH causes mental delay if not diagnosed and treated early.Objectives: The aim of this study was to determine if mandatory lockdown changed time of established NBS diagnosis steps.Mat...

Introduction: Type 1 diabetes (T1D) is a chronic autoimmune disease characterized by the presence of pancreatic-autoantibodies, which are diagnostic biomarkers. The detection of autoantibodies in first-degree relatives of patients with T1D is considered a risk factor for developing the disease; however, there is little information on how long it takes from the detection of autoimmunity to the clinical onset of T1D.Objectives:</st...

Background: The rs72613567:TA variant in the hydroxysteroid 17-beta dehydrogenase 13 (HSD17B13) gene has been associated with decreased risk of liver damage.Aims: To investigate the association between the HSD17B13 rs72613567:TA variant and both hepatic steatosis and biochemical markers of liver damage in obese children and to evaluate its potential effect in NAFLD genetic predisposition.<p...

Background: The phenotype of SHOX aploinsufficiency is highly variable also in affected members of the same family with broad differences in severity of short stature, disproportion, presence of Madelung deformity.Case presentation: We present a family with a new mutation of SHOX gene. A 2.3 years old girl, born at term from unrelated parents, came to our observation for short stature. Her height was −2.02 SDS, arm span was normal, sitting heigh/he...

Introduction: Type 1 Arnold Chiari syndrome (extension of cerebellar tonsils into the foramen magnum without involving the brain stem) causes ataxia, dysphagia, headache, breathing problems… So far, an association between Arnold Chiari and autoimmune diseases has not yet been described in literature.Case 1 description: M.V., on term third born, spontaneous delivery, non complicated pregnancy, normal physical and psychological development stages. He...

Case presentation: G. 15 years 8 months; H 180 cm; P 149.6 kg, BMI 46 kg/m2, second born, father obese, healthy mother and two brothers, no familiarity for T1DM/T2DM, no gestational diabetes. Bronchial asthma, since 2-year-old important weight increase. Flue, polyuria, polydipsia, 12 kg loss in 15 days, anorexia since 5 days, vomit. Hospitalized for tachycardia, dyspnea, and asthenia. On arrival: serious dehydration, Kussmaul breathing, neck subcutaneous emphysema, ...