hrp0089p3-p388 | Thyroid P3 | ESPE2018

A Rare Case of Pediatric Hyperthyroidism

Ciccone Sara , Ubertini Graziamaria , Pasini Manuela , Stella Marcello

Background: Hyperthyroidism is rare in childhood and adolescence and Graves’ disease accounts for approximately 96% of pediatric cases of thyrotoxicosis.Case Report: A 12-year-old girl, with no relevant family or personal history, was examinated for a thyroid mass noticed a few days before. She also reported excessive sweating of the hands and mild psychomotor agitation. Clinical examination revealed, in addition to the right thyroid mass, other sig...

hrp0086p2-p937 | Thyroid P2 | ESPE2016

Starting Treatment in Congenital Hypothyroidism with Normal FT4 Levels and Thyroid Gland in situ Detected at Neonatal Screening

Paone Laura , Gubinelli Jessica , Scire Giuseppe , Ubertini Graziamaria , Cappa Marco

Background: Recently congenital hypothyroidism (CH) is increased,particularly mild forms. Current guidelines recommend initial levothyroxine (LT4) dose of 10–15 mcg/kg per day as soon as possible, if diagnosis is confirmed by serum test, even if FT4 concentration is normal and venous TSH concentration is >20 microUI/ml.Objective and hypotheses: The aim of our study was to evaluate the initial LT4 dose in newborn with congenital hypothyroidism, n...

hrp0092p1-386 | Growth and Syndromes (to include Turner Syndrome) (2) | ESPE2019

Prevalence of Copy Number Variations (CNVs) in a Cohort of SGA Children with Persistent short Stature Associated with Additional Clinical Features.

Inzaghi Elena , Deodati Annalisa , Bizzarri Carla , Ubertini GraziaMaria , Pedicelli Stefania , Cappa Marco , Cianfarani Stefano

Background: Multiple factors may affect intrauterine growth leading to birth of children small for gestational age (SGA). The impact of subtle genetic alterations on both pre and post-natal growth is still largely unknown.Objective and Hypotheses: The aim of this study was to investigate the prevalence of CNVs in a cohort of SGA children with persistent short stature.Subjects and Methods</s...

hrp0089p2-p167 | Fat, Metabolism and Obesity P2 | ESPE2018

Metabolic Alteration in Patients Affected by PseudoHypoParathyroidismo 1a (PHP1a): A Preliminary Data

Fintini Danilo , Ubertini Graziamaria , Scire Giuseppe , Covertino Alessio , Bocchini Sarah , Deodati Annalisa , Cappa Marco

Pseudohypoparathyroidism (PHP) is a rare disease characterized by hormone resistance due to defect of the α subunit of the stimulatory G protein (Gsα). Hypocalcemia due to parathyroid hormone (PTH) resistance is common. PHP1a determined by maternal LoF mutations in GNAS, presents severe obesity as early feature with increased risk of developing metabolic derangement during life. The aim of the study was to evaluate the metabolic alteration in a population of...

hrp0092p1-14 | Bone, Growth Plate and Mineral Metabolism | ESPE2019

Refractory Hypercalcemia After Denosumab Treatment in Pediatric Age: A Case Report

Deodati Annalisa , Ubertini Graziamaria , Grossi Armando , Inzaghi Elena , Paone Laura , Maria Milano Giuseppe , Cappa Marco , Fintini Danilo

Background: Denosumab is a new class of antiresorptive medication and a fully human monoclonal antibody of the IgG2 immunoglobulin isotype to RANKL. In fact, it binds with high affinity and specificity to RANKL, mimicking the inhibitory effects of Osteoprotegerin, resulting in rapid suppression of bone resorption. Denosumab is commonly used also in pediatric age for treatment of osteoporosis, malignancies, and other benign bone lesions, such as fibrous dysplas...

hrp0086p1-p926 | Thyroid P1 | ESPE2016

Minimally Invasive Video-Assisted Thyroid Surgery in Children: A Single Center Ten-Years Experience

Ferro Giusy , Martini Ludovica , Ferroli Barbara Baldini , Benevento Danila , Ubertini Graziamaria , Cappa Marco , Lombardi Celestino Pio , Grossi Armando

Background: Improved tools for diagnosis, a higher malignancy risk in thyroid nodules and the referral to surgery in Grave’s disease when medication fails, have lead to increased thyroidectomies in children.Objective and hypotheses: The aim of our study was to evaluate thyroid surgery outcomes and the presence of transient or permanent complications, in a cohort of children who underwent surgery, with the same surgical team, in the last 10 years.</p...

hrp0084p1-99 | Growth | ESPE2015

GH Hypersecretion in Children with NF1 and Optic Pathway Gliomas

Pedicelli Stefania , Cambiaso Paola , Macchiaiolo Marina , Galassi Stefania , Mastronuzzi Angela , Del Bufalo Francesca , Ubertini Graziamaria , Cappa Marco

Background: The association of NF1 with optic pathway glioma (OPT) and GH hypersecretion was initially described in some isolated cases, while the presence of PP was more frequently reported in these patients. Association of gigantism and precocious puberty (PP) in five children with OPT (isolated in two and associated with NF1 in three cases) has been recently published.Aims: To evaluate the frequency of GH hypersecretion in children with NF1 and OPT, t...

hrp0095p1-265 | Fat, Metabolism and Obesity | ESPE2022

A point mutation of SH2B1: a new cause of monogenic obesity?

CriscuoloSabrina , Ubertini Graziamaria , d'Aniello Francesco , Mirra Giulia , Mucciolo Mafalda , Elisa Amodeo Maria , Deodati Annalisa , Rapini Novella , Cappa Marco

Early identification of monogenic obesity, a rare condition, is quite challenging for pediatricians. Src-homology-2 (SH2) B adapter protein 1 (SH2B1) is an important component in the leptin-melanocortin pathway and it is found to play an important role in leptin and insulin signaling. In humans a rare deletion of a 220-kb region on chromosome 16p11.2 encompassing approximately 9 genes, including the SH2B1 gene, is associated with a highly penetrant form of isolated severe earl...

hrp0095p1-164 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Familial Central Precocious Puberty: a case of three siblings with MKRN3 mutation

d'Aniello Francesco , Ubertini Graziamaria , Elisa Amodeo Maria , Mirra Giulia , Criscuolo Sabrina , Mucciolo Mafalda , Fintini Danilo , Cappa Marco

Introduction: We report a series of three siblings, two girls and one boy, diagnosed with Central Precocious Puberty (CPP) respectively at the age of 5.66, 6.67 and 8.5 years, carrying a mutation in the gene encoding the makorin RING finger protein 3 (MKRN3), usually responsible for the development of familial CPP.Methods: We diagnosed CPP in all the patients by performing a GnRH test. We also dosed basal levels of LH, F...

hrp0095p1-125 | Growth and Syndromes | ESPE2022

SHOX gene deletion as part of a contiguous gene syndrome at Xp22.31p22.33 deletions

Elisa Amodeo Maria , Deodati Annalisa , Mirra Giulia , D'aniello Francesco , Bocchini Sarah , Fintini Danilo , Grossi Armando , Cappa Marco , Ubertini Graziamaria

Background: Terminal or interstitial deletions of Xp (Xp22.2→Xpter) in males have been recognized as a cause of contiguous gene syndromes showing variable association of apparently unrelated clinical manifestations such as Leri-Weill dyschondrosteosis (SHOX), chondrodysplasia punctata (ARSE), mental retardation (NLGN4), ichthyosis (STS), Kallmann syndrome (KAL1), and ocular albinism (GPR143).Case reports: We report ...