ESPE Abstracts

Objectives: To describe the patients with gender non-conforming referred to a pediatric medical center after creation of the multidisciplinary team "APEVAGE" (Ambulatorio Pediatrico per la Varianza di Genere, Pediatric Clinic for Gender Variance) composed by pediatric endocrinologist, psychologist and child psychiatrist at Institute for Maternal and Child Health "Burlo Garofolo" in Trieste. It is one of the 8 centers recognized by ONIG (Osserva...

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...

The LMNA gene encodes lamin A/C, intermediate filament proteins associated with the inner nuclear membrane. Mutations in LMNA gene cause a wide range of human diseases sometimes called ‘laminopathies’ that affect different organ systems depending upon the mutation. Most laminopathies involve tissue of mesenchymal origins, resulting in such features as cardiac disorders and/or muscular dystrophy, lipodystrophy or progeroid syndromes. The group of progeroid syndromes i...

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...

Background: There is wide geographic variation in the frequency of diabetic ketoacidosis (DKA) at onset of diabetes from ~15–70% in Europe and North America.Objective and hypotheses: To evaluate the frequency of DKA at the onset of type 1 diabetes (T1D) in the paediatric population seen in the Department of Pediatric Diabetology of Turin (Italy) from 1/1/2008 to 31/12/2013.Method: Data (venous pH and HCO3, season at the onset)...

Background: Genetic and epigenetic alterations at the GNAS locus are responsible for the Gsα protein dysfunctions causing Pseudohypoparathyroidism (PHP), a heterogeneous disease characterized by multiple hormone resistances and AHO signs (short stature, obesity, round face, brachydactyly, subcutaneous ossifications and mental retardation). A clinical overlap among molecular subtypes of the disease (Ia, Ib, Ic and II) makes the current classification inadequate; furthermor...

Since the first description of pseudohypoparathyroidism (PHP), a remarkable clinical variability, which translates in several PHP subtypes, was observed. In 2016 a new classification of this group of diseases have been published by the European Network on PHP and related disorders, proposing “inactivating PTH/PTHrP signaling disorder” (iPPSD) as a new term that encompasses all the clinical entities, stressing the common mechanism responsible for all diseases. iPPSDs ...

Introduction: Brain tumors are the most common solid neoplasm in children, and treatment often includes high-dose irradiation of the central nervous system (CNS). Although not universal, growth hormone deficiency (GHD) is a very common endocrine late effect after CNS irradiation in childhood. The consequences of GHD in adults are many e.g., reduced bone mineral density, fatigue, decreased lean body mass and adiposity, which implies that adults with severe GHD ...