hrp0092p1-391 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Foramen Magnum Stenosis (FMS): Neuroradiological Aspects before and after Cervical Decompression in Paediatric Patients with Achondroplasia (ACH).The 'Achondroplasia Multidisciplinary Gaslini's Group' (AMGG) Istituto Giannina Gaslini, Genova, Italy: Child Neuropsychiatry Unit, Neuroradiology Unit, Department of Paediatrics, Neurosurgery Unit, Orthopedic Unit, Rehabilitation Unit, Pulmonary Disease and Allergy Unit.

Allegri Anna Elsa Maria , Di Iorgi Natascia , Napoli Flavia , Patti Giuseppa , Siri Giulia , Severino Mariasavina , Piatelli Gianluca , Maghnie Mohamad

The identification of anamnestic, clinical and instrumental data indicative of pathological FMS plays a pivotal role in the prevention of ACH complications.Objective: identify key cranio-cervical junction(CCJ)neuroradiological features for the surgical choice and for the neuroradiological decompression outcome.Methods: from a total of 191 patients, we selected 24 subjects with ACH (age:<4years)...

hrp0092p2-298 | Thyroid | ESPE2019

Neonatal Hyperthyroidism: Our Centre's Experience

Vigone Maria Cristina , Vincenzi Gaia , Caiulo Silvana , Di Frenna Marianna , Saracco Luca , Cecchetti Valeria , Mosca Fabio , Barera Graziano , Weber Giovanna

Objective: Neonatal hyperthyroidism is a severe but generally transient condition with a 2% prevalence in offspring of mothers affected by Graves' disease. It is caused by the transplacental passage of maternal anti-thyrotropin receptor stimulant antibodies (TRABs). Here we report the cases diagnosed at our centre between 2015-2019 in order to re-evaluate the diagnostic and therapeutic approach to this challenging neonatal thyroid alteration.<p cla...

hrp0089p1-p251 | Thyroid P1 | ESPE2018

Congenital Hypothyroidism (CH) with Delayed TSH Elevation: The Importance of The Second-Screening Strategy and the Evolution of CH in Preterm Infants

Caiulo Silvana , Vigone Maria Cristina , Olivieri Antonella , Frenna Marianna di , Vincenzi Gaia , Barera Graziano , Corbetta Carlo , Weber Giovanna

Objectives: Preterm infants often present CH characterized by delayed TSH elevation. We describe the clinical and biochemical features and the evolution of CH in preterm infants with delayed TSH elevation, detected by the second screening for CH.Material and Methods: All preterm infants born between 2007 and 2014 negative to the first screening (b-TSH<10 mcU/ml) at 2–5 days of life and positive to the second screening at 12–33 days (b-TSH&#...

hrp0086p2-p933 | Thyroid P2 | ESPE2016

Clinical Case of Acute Liver Injury in Pediatric Patient with Autoimmune Hyperthyroidism

Caiulo Silvana , Vigone Maria Cristina , Peroni Elena , di Frenna Marianna , Saracco Luca , Memoli Massimo , Barera Graziano , Weber Giovanna

Background: Autoimmune hepatitis (AIH) and methimazole (MMI)-induced toxic hepatitis are both rare diseases in pediatric age.Case presentation: We present the case of a 15-year-old girl affected by idiopathic arthritis and autoimmune thyroiditis. The autoimmune thyroiditis was diagnosed at 13 years of age. At 15 years old she developed hyperthyroidism (TSH <0.01 mcU/ml, FT4 2.3 ng/dl, FT3 8.4 pg/ml, TRAb 18 IU/l) and was treated with MMI (0.28 mg/kg ...

hrp0082p1-d1-241 | Thyroid | ESPE2014

Twin Couples and/or Triplets Discordant for Congenital Hypothyroidism at Birth: the Importance of the Re-screening at 2–4 Weeks of Life

Olivieri Antonella , Medda Emanuela , Cassio Alessandra , Weber Giovanna , Costa Pietro , Calaciura Francesca , Vigone Maria Cristina , Russo Valentina Di , Fazzini Cristina

Background: A high risk of congenital hypothyroidism (CH) has been documented in multiple pregnancies. Over the years special screening procedures for preterm and twin babies (re-screening at 2–4 weeks of life) have been adopted by many screening laboratories worldwide. However, no extensive studies have been performed to verify how many co-twins with negative test at first screening (3–5 days of life) become positive at re-screening, and the utility of a long-term f...

hrp0082p2-d1-587 | Thyroid | ESPE2014

Mutation of the TSH Receptor Gene: a Longitudinal Study in Children with Non-Autoimmune Subclinical Hypothyroidism

Vigone Maria Cristina , Sonnino Micol , Guizzardi Fabiana , Frenna Marianna Di , Caiulo Silvana , Gelmini Giulia , Persani Luca , Weber Giovanna

Background: Neonatal screening strategies revealed an increase in hypothyroidism associated with an in-situ thyroid gland due to TSH receptor (TSHR) mutations. While there are many genetic and functional studies regarding TSHR mutations, few are found concerning the clinical course and long-term outcome of TSH resistance involving the pediatric population.Objective and hypotheses: To determine the impact of TSHR mutations on clinical course, biochemical ...

hrp0084p2-456 | Growth | ESPE2015

The Effect of Inhaled Glucocorticoid Therapy on Growth Patterns in Pre-Pubertal Children with Asthma Compared to Controls

De Leonibus Chiara , Roze Zane , Attanasi Marina , Marcovecchio Maria Loredana , Di Pillo Sabrina , Chiarelli Francesco , Mohn Angelika

Background: Controversial data exist on the possibility that inhaled glucocorticoids (IGs) affect growth in children with mild-to-moderate asthma. The majority of these studies are short-term reports lacking long-term assessment until the achievement of final height (FH).Objectives: To assess whether IGs affect growth and FH in asthmatic children compared to controls.Methods: 113 asthmatic (57/56 (males/females)) were compared to 6...

hrp0094p1-172 | Growth Hormone and IGFs B | ESPE2021

Glucagon Testing of Childhood-Onset Growth Hormone Deficiency during Transition

Guglielmi Davide , Napoli Flavia , Allegri Anna Elsa Maria , Patti Giuseppa , Fava Daniela , Crocco Marco , Maghnie Mohamad , Di Iorgi Natascia ,

Objectives: To reassess growth hormone (GH) status by the means of Insulin (ITT) and Glucagon tests (GL) in young adults with childhood-onset GHD.Methods: We present preliminary data of 67 subjects (25F, 42M) recruited from a single Center, in whom anthropometrics, ITT and GL stimulation tests and IGF-1 evaluations were undertaken at adult height achievement, at a mean age of 17.3±2.2 (range: 13.3-25.7). Subjects we...

hrp0095p1-556 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Surprisingly high frequency of pituitary stalk thickening in pediatric patients during COVID-19 pandemic in Chile.

Zepeda Diego , Peña Fernanda , Pablo Fernandez Jose , Okuma Cecilia , Naudy Cristian , J Guarda Francisco , Isabel Hernandez Maria

Introduction: Pituitary stalk thickening (PST) is a rare condition in pediatric patients. As there are few studies published in pediatric population, the definition has been difficult to establish. The etiologies involved in PST can be divided in neoplastic, congenital, inflammatory/infectious or autoimmune diseases. In children the most frequent causes are neoplastic, followed by congenital lesions. The inflammatory/infectious and autoimmune diseases are rare...

hrp0082p2-d1-449 | Growth | ESPE2014

Fibroblast Growth Factor 21 is Inversely Associated with Growth Rates in Infancy

Mericq Veronica , De Luca Francesco , Hernandez Maria_Isabel , Pena Veronica , Rossel Katherine , Cavada Gabriel , Avila Alejandra , Iniguez German

Background: FGF21 is a metabolic and growth regulator.Aim: To investigate the role of FGF21 during growth in infancy.Methods: Cohort of 40 term (T) and 40 preterm (PT) newborns whose length and weight were evaluated prospectively at birth, 6 months, and 12 months. Blood samples for FGF21, IGF1, leptin, insulin and glucose were collected at 6 and 12 months. In addition, FGF21, I GF-I, leptin, and insulin were measured in cord blood ...