hrp0089p2-p390 | Thyroid P2 | ESPE2018

Multinodular Goiter in Childhood: Look for DICER1 Mutation

Suteau Valentine , Isabelle Souto , Natacha Bouhours-Nouet , Maryam Azgal , Justine Bailleul , Marie-Neige Campas , Aurelie Donzeau , Patrice Rodien , Regis Coutant

Introduction: Multinodular goiter (MNG) is a common disorder of the thyroid gland, characterized by thyroid enlargement due to the development of multiple hyperplastic nodules. It is infrequent in children. Here, we present the case of two families with novel DICER1 mutations and familial history of nodules in adolescence.Observations: A 10-year-old female presented a MNG. TSH, Free T3, Free T4 were in the normal range and thyroid autoantibodies were neg...

hrp0092p1-360 | GH and IGFs (2) | ESPE2019

Prevalence of Children Born Small for Gestational Age with Short Stature who Qualify for Growth Hormone Treatment: A Preliminary Population-Based Study

Tamaro Gianluca , Pizzul Mariagrazia , Gaeta Giuliana , Servello Raffaella , Trevisan Marina , Ada Materassi Paola Manera , Macaluso Anna , Valentini Denis , Pellegrin Maria Chiara , Tornese Gianluca

Background: In 2003 recombinant human growth hormone (rhGH) was approved by European Medicines Agency to treat short children born small for gestational age (SGA), but so far no study evaluated the prevalence of SGA children with short stature who qualify for rhGH treatment in Europe.Objectives: To investigate the prevalence of SGA and short stature in children born SGA and of SGA children who qualify for rhGH treatment ...

hrp0082p1-d2-10 | Adrenals & HP Axis | ESPE2014

An Unusual Presentation of Isolated ACTH-Deficiency Secondary to TBX19 Mutation Revealed by Late Onset Hypoglycemia Seizure

Valentin Cecile , Saveanu Alexandru , Beltrand Jacques , Netchine Irene

Background: Congenital isolated ACTH deficiency (IAD) is a rare inherited disorder that is clinically and genetically heterogeneous. Patients are characterized by low or absent cortisol production secondary to low plasma ACTH despite normal secretion of other pituitary hormones and the absence of structural pituitary defects. Mutations in the TBX19 gene, a T-box factor selectively expressed in developing corticotroph cells, have been identified so far only in cases of neonatal...

hrp0094p2-295 | Growth and syndromes (to include Turner syndrome) | ESPE2021

An Italian survey on GH stimulation tests and their adverse side effects.

Salvatoni Alessandro , Agosti Massimo , Aversa Tommaso , Azzolini Sara , Bozzola Mauro , Calcaterra Valeria , Cardinale Giuliana Marcella , Caruso Manuela , Cavarzere Paolo , Cherubini Valentino , Ciccone Sara , Dipasquale Laura , Driul Daniela , Faienza Maria Felicia , FORINO Concetta , Grandone Anna , Guzzetti Chiara , Iezzi Maria Laura , Iughetti Lorenzo , Loche Sandro , Maghnie Mohamad , Mameli Chiara , Mancioppi Valentina , Matarazzo Patrizia , Messini Beatrice , Parpagnoli Maria , Carolina Salerno Maria , Tornese Gianluca , Trettene Adolfo Andrea , Vannelli Silvia , Zucchini Stefano , Delvecchio Maurizio ,

Introduction: The diagnosis of GHD requires the coexistence of anamnestic, auxological and laboratory data. The latter are burdened by the poor accuracy and adverse effects of the stimulation tests. A recent european audit (Horm Res Paediatr 2019;92(3): 150-156) on GH diagnostic reported as preferred tests in Italy Insulin tolerance test (ITT), glucagon, clonidine, arginine and Arg-GHRH. We conducted a survey to explore which of them are most used in It...

hrp0095p1-61 | Diabetes and Insulin | ESPE2022

Increased incidence of childhood type 1 diabetes during COVID-19 pandemic. Figures from an Italian tertiary care center

Deodati Annalisa , Rapini Novella , Pampanini Valentina , Ciampalini Paolo , Cristina Matteoli Maria , Patriza Patera Ippolita , Schiaffini Riccardo , Stefano Cianfarani

Background: CDC (Centers for Disease Control and Prevention) reported an increased risk of newly diagnosed diabetes over 30 days after SARS-CoV-2 infection among persons aged < 18 years. Similarly, the results from the DPV Registry demonstrated a significant increase in the incidence of pediatric Type 1 Diabetes during COVID-19 pandemic. The underlying mechanisms are not yet elucidated.Aim: To investigate the incidenc...

hrp0095p2-272 | Sex Differentiation, Gonads and Gynaecology, and Sex Endocrinology | ESPE2022

A Rare HSD17B3 Gene Variant Presenting Virilization at Puberty: Management and Treatment in Adolescent Age.

Berveglieri Vittoria , Folgheraiter Valentina , Di Paola Rossana , Bertelloni Silvano , Baldinotti Fulvia , Dal Ben Sarah , Cavarzare Paolo , Antoniazzi Franco , Gaudino Rossella

Introduction: Pathogenetic mutations in the HSD17B3, located on chromosome 9q22, lead to 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3) isoenzyme deficiency, etiopathogenetic for a disorder of sex development (DSD) with 46 XY karyotype and female phenotype at birth. 17β-HSD3 isoenzyme, expressed at testicular tissue, catalyzes the synthesis of testosterone from Δ4-androstenedione, allowing the correct development of male external genit...

hrp0092rfc7.6 | Diabetes and Insulin Session 2 | ESPE2019

Health-Related Quality of Life and Diabetes Control in Immigrant and Italian Children and Adolescents with Type 1 Diabetes and in their Parents

Predieri Barbara , Boncompagni Alessandra , Bruzzi Patrizia , Cenciarelli Valentina , Madeo Simona F. , Pugliese Marisa , Toffoli Carlotta , Bocchi Federica , Iughetti Lorenzo

Background/Objectives: Type 1 diabetes (T1D) is a chronic metabolic disease that requires daily and complex management for both patients and their caregivers, impairing the quality of life. Aim of this cross-sectional observational study was to determine whether metabolic control and health-related quality of life (HRQOL) of T1D subjects and their parents could be influenced by immigration status.Methods: We enrolled 125...

hrp0092p1-185 | Diabetes and Insulin (1) | ESPE2019

Endothelial and Heart Dysfunction in Children and Adolescents with Type 1 Diabetes

Predieri Barbara , Lami Francesca , Cenciarelli Valentina , Ciancia Silvia , Righi Beatrice , Madeo Simona F. , Bruzzi Patrizia , Prampolini Beatrice , Iughetti Lorenzo

Background/Objectives: Type 1 diabetes (T1D) is an important risk factor for cardiovascular disease (CVD). Even if CVD become mainly manifest in adulthood, the process of atherosclerosis starts in childhood. Ultrasound is a reliable and noninvasive method for detecting early structural and functional atherosclerotic changes in arterial wall and heart. Aim of this study was to determine early ultrasound signs of atherosclerosis and of left ventricular (LV) syst...

hrp0086p1-p340 | Gonads &amp; DSD P1 | ESPE2016

Intrauterine Growth Restriction Affects Postnatal Testis Maturation in Rats

Pampanini Valentina , Germani Daniela , Puglianiello Antonella , Stukenborg Jan-Bernd , Reda Ahmed , Savchuk Iuliia , Kjartansdottir Ros , Cianfarani Stefano , Soder Olle

Background: The influence of intrauterine life on long term health is supported by a wealth of epidemiological and experimental studies. A low oxygen and/or nutrient supply to the fetus, resulting in intrauterine growth restriction (IUGR), may affect gonadal development of the offspring, with a potential impact on fertility. Data derived from animal models of placental insufficiency are very limited.Objective and hypotheses: To investigate the effects of...

hrp0082p1-d3-89 | Diabetes (2) | ESPE2014

Nutritional Status and Respiratory Function in Patients Affected by Cystic Fibrosis and Glucose Metabolism Derangements after 4 Years of Insulin Therapy with Glargine

Mozzillo Enza , Raia Valeria , Fattorusso Valentina , Cerrato Carla , De Nitto Elena , De Gregorio Fabiola , Sepe Angela , Valerio Giuliana , Franzese Adriana

Background: The glucose metabolism derangements (GMD) can have an important impact on nutritional status and respiratory function in patients with cystic fibrosis (CF).Objective and hypotheses: The aim of our study is to evaluate the effects of 4 years of glargine therapy in patients affected by CF and GMD.Method: All CF patients attended to the Center of Cystic Fibrosis of our department were screened by oral glucose tolerance tes...