ESPE Abstracts

Background: ROHHAD/ROHHADNET syndrome (rapid-onset obesity with hypothalamic dysfunction, central hypoventilation, autonomic dysregulation with or without neural tumor - NET) – has been reported in association with cerebral venous thrombosis events, as reported also in central hypoventilation syndrome. It is not clear whether thrombotic risk represents a cause or a consequence of hypoventilation and hypothalamic dysfunction. Aim of our study was to chara...

Background: Childhood-onset obesity is a multifactorial disease with a lifelong health burden. In many cases, obesity is the result of the interaction between genetic predisposition and environmental factors. Aim of our study was to define phenotypic features of obese children and adolescents and to find possible associations between clinical phenotype and genetic variants.Patients and Methods: We recruited obese childre...

Background: Data regarding epidemiology and management of Diabetic Ketoacidosis (DKA) in Italian children with T1D at disease onset are lacking.Method: From 1/1/2012 to 31/12/2013 a survey on DKA was conducted in all paediatric Centres belonging to the Italian Society for Pediatric Diabetology and Endocrinology. DKA was defined according to the ISPAD criteria. The following data were collected: treatment according ISPAD protocol yes or not, type of rehyd...

Background: Type 1 diabetes (T1D) is the most frequent etiology in Italian diabetic children and adolescents. Data on type 2 (T2D) and monogenic diabetes (MD) prevalence are scanty.Objective and hypotheses: To estimate the prevalence of T1D, T2D, secondary diabetes, and MD in a pediatric population of Italian diabetic patients.Method: Data on 3,076 patients (diabetes onset January 2007–December 2012, age at diagnosis <18 y...

Background: Adolescents affected by chronic diseases need a specific support and care, in a contest dedicated to them and not integrated with children. They often ask a specific attention to their asks, only partially secondary to their primary disease.Objective and hypotheses: The need of a support in communication of the diagnosis, in the adherence to a long-life or to a prolonged treatment and a long follow-up, with repeated blood samples, strumental ...

Hashimoto encephalopathy is an autoimmune encephalopathy predominantly diagnosed in the adult population. In the pediatric population, the mean age is determined to be 14 years, with the majority of adolescent females. The diagnosis of Hashimoto encephalopathy is clinical and based on the highly variable neuropsychiatric conditions, often affecting more than one area of the central nervous system, the detection of antiperoxidase or antithyroglobulin antibodies in serum, and on...

Background: Polyuria and polydipsia syndrome (PPS) workup is not straightforward, especially in children. Basal investigations are often not reliable in distinguishing among diabetes insipidus (DI), central (CDI) or nephrogenic (NDI), and primary polydipsia (PP). Water deprivation test (WDT) is often essential, although uncomfortable and not always reliable enough to recognize partial DI. Plasma AVP investigation is not routinely used in the diagnostic pathway...

Background: The use of international or local growth charts for the definition of pediatric obesity is still debated. Inappropriate reference standards may lead to under/over-estimation of the prevalence and consequently of the number of patients to be included in diagnostic work-up.Objective and hypotheses: To define the differences between patients considered obese according to either CDC or Italian growth charts.Method: A single...

Background: Recently congenital hypothyroidism (CH) is increased,particularly mild forms. Current guidelines recommend initial levothyroxine (LT4) dose of 10–15 mcg/kg per day as soon as possible, if diagnosis is confirmed by serum test, even if FT4 concentration is normal and venous TSH concentration is >20 microUI/ml.Objective and hypotheses: The aim of our study was to evaluate the initial LT4 dose in newborn with congenital hypothyroidism, n...

Background: Antipituitary (APA) and antihypothalamus antibodies (AHA) have not been investigated in children and adolescents with brain tumors.Patients and Methods: Sixty-three patients with craniopharyngioma, glioma and germinoma treated with surgery and/or chemotherapy and/or radiotherapy were evaluated at a median age of 13 years. Forty-one had MPHD, 6 had a single defect being GH the most common (65.1%), followed...