ESPE Abstracts

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...

Background: The gastrointestinal (GI) tract plays a central role in maintaining energy balance and body weight regulation. These functions are mediated by the secretion of gut hormones, including ghrelin, cholecystokinin (CCK), peptide YY(PYY), oxyntomodulin (OXM) and many other hormones. Some of them are orexigenic hormones that promote food intake, while others act as satiety signals and enhance insulin secretion from the pancreatic beta cells. Current evide...

Introduction: Short stature is frequently associated to neurofibromatosis (NF). In these patients this condition is often caused by growth hormone (GH) deficiency. We describe four boys affected by NF type 1 and GH deficiency treated with GH replacement therapy.Case report: GH deficiency was diagnosed in four patients with NF type 1, who were referred to our Pediatric Endocrinology Unit for short stature. Patient 1 started GH replacement therapy at the C...

Introduction: Kabuki syndrome (KS) is a rare genetic disorder (1 in 32,000 newborns) caused by mutations in the KMT2D gene (autosomal dominant pattern) or the KDM6A gene (X-linked dominant inheritance). KS is characterized by distinctive facial features including arched eyebrows, long eyelashes, long palpebral fissures with everted lower lids at the outside edges, flat, broadened tip of the nose and large protruding earlobes. The name of this disorder comes from the resemblanc...

Introduction: The oto-spondylo-megaepiphyseal dysplasia (OSMED) is a rare condition with autosomal recessive inheritance caused by congenital defect in the formation of cartilage collagen. OSMED is caused by mutations in the COL11A2 gene, which encodes the alpha2 chain of XI type collagen, a complex molecule that gives structure and strength to the connective tissues that support the body’s joints and organs. OSMED is characterized by severe sensorineural hearing loss and...

Introduction: Klippel-Feil Syndrome (KFS), prevalence of 1:40000, is characterized by congenital fusion of cervical vertebrae; three major features are short neck, low hairline at the back of the head and a limited range of motion in the neck. The phenotypic expression is variable, presenting with other vertebral abnormalities (congenital high scapula, scoliosis, kyphosis, spina bifida, hemivertebrae) or extra skeletal symptoms such us deafness, renal, heart or neurological ab...

Congenital Central Hypothyroidism (CeH) is a rare and heterogenous disease that can be part of a combined pituitary hormone deficit (CPHD) condition. The immunoglobulin superfamily member 1 (IGSF1) is the gene more frequently involved in these inherited forms and responsible for the so called X-linked IGSF1 deficiency syndrome, characterized by an estimated incidence of 1: 100.000. The main features are CeH, delayed/disharmonic pubertal development, macroorchidism, va...

Pediatric obesity is constantly increasing and exposes to serious cardiovascular and metabolic risks. The first treatment against obesity is lifestyle change. Actually, any intervention seems to be effective on the evolution of this condition, especially in the long term. For this reason, the interest in non-pharmaceutical compounds is growing. Several studies mentioned the use of zinc and inositol as compounds acting on weight loss and insulin resistance. The aim of this stud...

Handling diabetes at a very early age is difficult, even more when a complementary diet has not yet started. There is increasing evidence supporting the use of CSII in infants but some tricks could be useful.Infant 1: 10 mo, admitted in cardiac arrest. ROSC after 3 minutes, severe DKA (pH 6,95). Transferred to PICU, received also plasma transfusions. Day 2: CGM Dexcom G6 was started and tests for pancreatic autoimmunity and genetic of ne...

Cystic Fibrosis (CF), is due to CF-transmembrane-conductance-regulator (CFTR) loss-of-function. Significant heterogeneity exists between patients, suggesting potential epigenetic regulation, and comorbidities develop with time. MiRNAs are non-coding RNAs that act as epigenetic regulators. Although many studies have focused on the role for miRNAs in regulating CFTR gene expression, little attention has been given to how CFTR influences their expression and how this affects grow...