hrp0082p3-d3-654 | Autoimmune Endocrine Disease | ESPE2014

Adrenocortical Tumor: a Case Report

Guidoni Elisa , Scarinci Renato , Municchi Giovanna

Background: The annual worldwide incidence of childhood adrenocortical tumors (ACT) ranges from 0.3 to 0.38/million children below the age of 15 years. Only 1–2% of them are feminizing ACT occurring in prepubertal boys and presenting with gynecomastia that normalizes after tumor removal.Case report: We present a case of a feminizing ACT. The boy was referred for bilateral gynecomastia, appeared 6 months before, at the chronological age (CA) of 7.5 y...

hrp0082p3-d1-986 | Thyroid | ESPE2014

Klippel-Feil Syndrome and Thyroiditis: a Case Report

Guidoni Elisa , Scarinci Renato , Municchi Giovanna

Background: Klippel–Feil syndrome (KFS) is characterized by congenital fusion of cervical vertebrae and has a prevalence of 1:50 000. The phenotypic expression is variable, sometimes presenting with extraskeletal symptoms.Case report: A girl was referred at the cronological age (CA) of 10.3 years with a suspected diagnosis of Turner syndrome, due to the presence of webbed neck and progressive deceleration of growth velocity. The girl, born in Russia...

hrp0082p3-d3-837 | Growth (2) | ESPE2014

GH Treatment in Dent’s Disease: a Case Report

Falcone Simona , Guidoni Elisa , Municchi Giovanna , Cioni Maddalena

Background: Dent’s disease is an X-linked recessive proximal tubulopathy characterized by low molecular weight proteinuria, hypercalciuria, nephrocalcinosis, nephrolithiasis, and progressive renal failure. Growth retardation, due to resistance to GH action is a feature commonly associated with Dent’s disease.Case report: We describe a boy diagnosed with Dent disease, treated with recombinant human GH. He was initially referred at 6 years of age...

hrp0084p3-978 | GH & IGF | ESPE2015

GH Therapy in Lery-Weill Syndrome: Report of Three Cases

Guidoni Elisa , Franceschini Michela , Mucaria Cristina , Scarinci Renato , Municchi Giovanna

Background: SHOX deficiency is a frequent cause of short stature. GH therapy has been approved for growth promotion in individuals with SHOX mutations by FDA and EMEA.Case report: Three patients with Leri-Weill syndrome (LWS) started GH therapy at different chronological ages (CA). Patient 1 started GH+LHRHa at the CA of 13.4 years, height 148.4 cm (−1.5 S.D.), Tanner stage 4, bone age (BA) 13 years. Target height (TH) 160.5 cm (&#87...

hrp0084p3-1163 | Puberty | ESPE2015

Pubertal Development Anticipation

Guidoni Elisa , Franceschini Michela , Mucaria Cristina , Scarinci Renato , Municchi Giovanna

Background: Pubertal timing is influenced by a complex interaction among genetic, nutritional, environmental and socioeconomic factors. Over the past 30 years a trend in pubertal timing anticipation has been demonstrated. Environmental factors involved in this phenomenon are mainly represented by endocrine disruptors compounds (EDCs), such as pesticides, industrial compounds and persistent organic pollutants, estrogens and phytoestrogens.Objective and hy...

hrp0089p3-p198 | GH & IGFs P3 | ESPE2018

Growth Hormone Deficiency in Neurofibromatosis: Report of Four Cases

Guidoni Elisa , Lotti Federica , Geronzi Ursula , Sorrentino Laura Arianna , Grosso Salvatore , Municchi Giovanna

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...

hrp0089p3-p232 | Growth & Syndromes P3 | ESPE2018

GH Treatment in Kabuki Syndrome: A Case Report

Guidoni Elisa , Lotti Federica , Geronzi Ursula , Arianna Sorrentino Laura , Grosso Salvatore , Municchi Giovanna

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...

hrp0089p3-p233 | Growth & Syndromes P3 | ESPE2018

GH Treatment in Oto-Spondylo-Megaepiphyseal Dysplasia: A Case Report

Guidoni Elisa , Geronzi Ursula , Lotti Federica , Sorrentino Laura Arianna , Grosso Salvatore , Municchi Giovanna

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...

hrp0089p2-p381 | Thyroid P2 | ESPE2018

Autoimmune Thyroiditis in Klippel-Feil Syndrome with Arnold Chiari and Syringomyelia

Guidoni Elisa , Lotti Federica , Geronzi Ursula , Arianna Sorrentino Laura , Municchi Giovanna

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...

hrp0084p3-1087 | Perinatal | ESPE2015

Differences in Leptin Levels Between Newborns with and without Intrauterine Growth Restriction Born in the Hospital Gineco Obstétrico ‘Isidro Ayora’ of Quito-Ecuador. Year 2013–2014

De la Vega Maria Elisa Acosta , Pino Marco Antonio , Naranjo William Daniel Acosta , Naranjo Alfredo

Background: Obesity has increased drastically in the last few years. It’s well known the connection between intrauterine growth restriction (IUGR) and the development of metabolic syndrome based on the thrifty phenotype. Some studies have proposed that a poor intrauterine environment could lead to the development of chronic conditions later in life, and its believed leptin is involved in this process.Objective and hypotheses: Establish the mean of l...