hrp0092p2-181 | Growth and Syndromes (to include Turner Syndrome) | ESPE2019

A Novel Case Of Paternal Isodisomy for Chromosome 7 Associated with Overgrowth

Pagliazzi Angelica , Artuso Rosangela , Guarducci Silvia , Pantaleo Marilena , Lucherini Barbara , Sani Ilaria , Landini Samuela , Traficante Giovanna , Provenzano Aldesia , La Barbera Andrea , Vergani Debora , Tiberi Lucia , Formicola Daniela , Mancano Giorgia , Bosi Emanuele , Peluso Francesca , Forzano Giulia , Contrò Gianluca , Di Giovanni Fabiana , Stagi Stefano , Giglio Sabrina

We report a pediatric patient with an undiagnosed and complex medical manifestation who was shown to have paternal isodisomy at chromosome 7. Our case is a female patient presented for increasing overweight, parotid hemangioma and gastroesophageal reflux with laryngomalacia. She was born at 35+4 weeks of gestation and her birth weight, length and occipitofrontal circumference (OFC) were 2500 g, 49 cm and 33 cm, respectively. At the time of our visit she was 16 months old, ...

hrp0092p1-251 | Pituitary, Neuroendocrinology and Puberty (1) | ESPE2019

Central Diabetes Insipidus in Children: Role of GH Antibodies

Napoli Flavia , Pani Fabiana , Gianti Francesca , Di Iorgi Natascia , Morana Giovanni , Allegri Anna Elsa Maria , Al_Thiabat Hanan Farid Mufleh , Gallizia Annalisa , Fava Daniela , Longo Chiara , Olcese Camilla , Vinci Francesco , Pistorio Angela , Caturegli Patrizio , Maghnie Mohamad

Central diabetes insipidus (CDI) in children is caused by brain tumors, Langerhans cell histiocytosis (LCH), trauma, infections, or genetic abnormalities in about 60% of the cases. In the remaining 40%, CDI is idiopathic even after detailed clinical and radiological investigations. Aim of the study was to assess whether measurement of serum antibodies against human growth hormone (GH) could aid in the identification of the etiological factors for CDI.<p class="abst...

hrp0089rfc7.6 | Fetal, Neonatal Endocrinology and Metabolism | ESPE2018

Assessment of Pituitary Stalk Anatomy by T2 DRIVE without Gadolinium in Pituitary Diseases

Napoli Flavia , Godano Elisabetta , Morana Giovanni , Di Iorgi Natascia , Pistorio Angela , Allegri Anna Elsa Maria , Gastaldi Roberto , Calcagno Annalisa , Patti Giuseppa , Gallizia Annalisa , Notarnicola Sara , Giaccardi Marta , Noli Serena , Severino Mariasavina , Tortora Domenico , Rossi Andrea , Maghnie Mohamad

Objectives: To evaluate the potential diagnostic role and sensitivity of T2-weighted DRIVE sequence in pituitary stalk (PS) identification and measurements in patients with hypothalamic-pituitary disorders. The degree of agreement and reliability between standard pre- and post-contrast T1-weighted images and T2-DRIVE will be tested in a large group of patients with pituitary dysfunction.Design: We searched for pituitary MRI reports using ‘T2-DRIVE&#...

hrp0082p3-d1-700 | Diabetes | ESPE2014

Diabetic Ketoacidosis in Children with T1DM: an Italian Multicentre Survey

Zucchini Stefano , Bonfanti Riccardo , Buono Pietro , Cardella Francesca , Cauvin Vittoria , Cherubini Valentino , Chiari Giovanni , D'Annunzio Giuseppe , Paola Frongia Anna , Iafusco Dario , Maltoni Giulio , Ippolita Patera Patrizia , Scaramuzza Andrea , Toni Sonia , Tumini Stefano , Rabbone Ivana

Background: Data regarding epidemiology and management of Diabetic Ketoacidosis (DKA) in Italian children with T1D at disease onset are lacking.Method: From 1/1/2012 to 31/12/2013 a survey on DKA was conducted in all paediatric Centres belonging to the Italian Society for Pediatric Diabetology and Endocrinology. DKA was defined according to the ISPAD criteria. The following data were collected: treatment according ISPAD protocol yes or not, type of rehyd...

hrp0084p1-93 | Growth | ESPE2015

Severe IGF1 Deficiency and Multi-Organ Autoimmune Disease Associated with Novel Germline STAT3 Mutations

Scaglia Paula , Keselman Ana , Gutierrez Mariana , Domene Sabina , Blanco Miguel , Sanguinetti Nora , Bezrodnik Liliana , Di Giovanni Daniela , Caldirola Maria Soledad , Martucci Lucia , Karabatas Liliana , Kumar Ashish , Jones Nana-Hawa , Hwa Vivian , Revale Santiago , Vazquez Martin , Jasper Hector , Domene Horacio

Background: Primary IGF1 deficiency can result from molecular defects in genes encoding for the GHR, IGF1, STAT5b and ALS. Heterozygous, activating mutations in the STAT3 gene have been recently described in children with severe growth failure associated with a spectrum of early-onset autoimmune disease.Case presentation: We report the molecular diagnosis in two unrelated patients with severe growth failure and IGF1 deficiency: P1, a 3.6 year ol...

hrp0092p2-48 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Novel Mutation of the Prkar1a Gene in a Girl with Clinical Diagnosis of Pseudohypoparathyroidism

Toromanovic Alma , Francesca Marta Elli , Mantovani Giovanna

Introduction: Despite the high detection rate of GNAS molecular defects, about 30% of patients with a clinical suspect of PHP/AHO still lack a confirming molecular diagnosis. Mutations in genes encoding proteins crucial for cAMP-mediated signaling have been recently detected in a small subset of patients negative for GNAS defects, showing a phenotypic overlap between PHP and Acrodysostosis.Clinical case pres...

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...

hrp0089p2-p205 | Fetal, Neonatal Endocrinology and Metabolism P2 | ESPE2018

Auxological Catch Up Growth and Evaluation of Spontaneous Motility in the Term Newborn Small for Gestational Age Employing the Prechtl Assessment of General Movements

Lucaccioni Laura , Talucci Giovanna , Leo Francesco , Ciancia Silvia , Russo Giovanna , Ferrari Fabrizio , Iughetti Lorenzo

Introduction: Term newborns Small for Gestational Age (SGA) have an increased risk for minor neurological impairment at pre- and school age. The general movements (GMs) assessment, in particular at Fidgety (F+) age, has been increasingly used to predict neurological dysfunctions. Aim of our study was to evaluate, in a population of term newborn SGA (gestational age >37 weeks) the growth recovery, the presence of F+ at 3 months of age, and the neurological outcome at 2 year...

hrp0095rfc4.6 | Fat, Metabolism and Obesity | ESPE2022

European Consortium of Lipodystrophies Registry, 2022

von Schnurbein Julia , Gambinieri Alessandra , Fernández-Pombo Antia , Akinci Baris , Vatier Camille , Cecchetti Carolina , Adiyaman Cem , Vigoroux Corrine , Araujo-Vilar David , Savage David , Gilio Donatella , Bismuth Elise , Sorkina Ekaterina , Vorona Elena , Santos Silva Ermelinda , Nobecourt Estelle , Csajbok Eva , Santini Ferrucio , Prodam Flavia , Nagel Gabriele , Aimaretti Gianluca , Latanzi Giovanna , Ceccarini Giovanni , Novelli Giuseppe , Yildirim Simsir Ilgin , Jeru Isabelle , Štotl Iztok , Carel Jean-Claude , Writzl Karin , Heldt Katrin , Miehle Konstanze , Kleinendorst Lotte , D’Apice Maria-Rosaria , Beghini Mariana , Vantyghem Marie-Christine , Broekema Marjoleine , Faßhauer Mathias , Stumvoll Michael , Sbraccia Paolo , Ozen Samim , Magno Silvia , Scherer Thomas , Daffara Thomaso , Pekkolay Zafer , Wabitsch Martin

Background: Lipodystrophy syndromes comprise a large group of extremely rare diseases characterized by loss or dysfunction of adipose tissue. Due to their extreme rarity and variability, research in the field of lipodystrophy is difficult for single centres warranting larger co-operations.Methods: Therefore, the European Consortium of Lipodystrophies decided to found an international registry in 2016. This registry is ba...