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...

hrp0092p1-323 | Diabetes and Insulin (2) | ESPE2019

Diabetes Type 2 in Non-Obese Neurologically Impaired Children and Adolescents: A New Emerging Entity?

Calcaterra Valeria , Regalbuto Corrado , Montalbano Chiara , Vinci Federica , De Silvestri Annalisa , Pelizzo Gloria , Cena Hellas , Larizza Daniela

Background: Insulin resistance (IR) plays a key role in the pathogenesis of type 2 diabetes (T2D). In neurologically impaired (NI) children unfavorable cardio-metabolic risk profile with high prevalence of IR has been reported. We evaluated the prevalence of T2D in NI children and adolescents, in order to define if a dedicated glucose monitoring may be recommended in these subjects.Patients and Methods: We retrospectivel...

hrp0092p3-98 | Fat, Metabolism and Obesity | ESPE2019

High Allostatic Load in Children with Excess of Weight

Calcaterra Valeria , Montalbano Chiara , Vinci Federica , Regalbuto Corrado , Casari Giulia , De Silvestri Annalisa , Cena Hellas , Larizza Daniela

Objective: Allostatic load (AL) refers to the physiological response that occurs in chronic stress burden, Excessive weight gain is an important source of physiological stress promoting chronic low-inflammation state detrimental for health. We estimated AL score among a pediatric population, in order to define a correlation between cumulative biological dysregulation and excess weight.Methods: We enrolled 164 children an...

hrp0092p3-115 | Fat, Metabolism and Obesity | ESPE2019

Gender-Based Differences in the Clustering of Metabolic Syndrome Factors in Children and Adolescents

Calcaterra Valeria , Regalbuto Corrado , Vinci Federica , Montalbano Chiara , Dobbiani Giulia , De Silvestri Annalisa , Cena Hellas , Larizza Daniela

Background: we depicted gender-differences in metabolic syndrome (MS) clustering before and after puberty in pediatrics, to identify early childhood prevention intervention and treatments.Methods: We considered 1079 children and adolescents. According to body mass index (BMI) percentiles the subjects were classified as normal weight BMI<75th, overweight BMI 75-95th and with obesity BMI>95th....

hrp0089p1-p073 | Diabetes &amp; Insulin P1 | ESPE2018

Efficacy of Real-time Continuous Glucose Monitoring in Type 1 Diabetic Pre-school and School Children Treated with Multiple Daily Injections

Schiaffini Riccardo , Rapini Novella , Pellicano Grazia , Patera Patrizia Ippolita , Ciampalini Paolo , Matteoli Maria Cristina , Deodati Annalisa , Cianfarani Stefano

Background: Young children affected by Type 1 Diabetes (T1D) are prone to glucose fluctuations and hardly reach a stable glycometabolic control, especially when treated with a Multiple Daily Insulin Injections (MDI) scheme. The recent Real-Time Continuous Glucose Monitoring (RT-CGM) System, Dexcom G5, the only available device registered for non-adjunctive insulin intervention, potentially facilitates a better management of the disease. Evidence regarding CGM effectiveness amo...

hrp0086p1-p128 | Bone &amp; Mineral Metabolism P1 | ESPE2016

Childhood Cancer Survivors (CCS) are at High Risk of Reduced Bone Mass During the Second Decade of Life

Di Iorgi Natascia , Morsellino Vera , Gallizia Annalisa , Pistorio Angela , Cerone Federica , Tallone Ramona , Haupt Riccardo , Maghnie Mohamad

Background: Childhood cancer survivors (CCS) are at risk for low bone mineral density (BMD).Objective: Aim of our study was to evaluate the prevalence of low BMD and itÂ’s determinants in a single-center cohort of CCS.Method: One-hundred-eighty-five CCS (103M, 84F) diagnosed with liquid-LT-(n=48), solid-ST-(n=88) and brain tumor-BT-(n=51) at the age of 5.3±3.2 years underwent height, BMI (SDS), T...

hrp0084p2-237 | Bone | ESPE2015

Intrauterine Growth Restriction, Gestational Age, Steroidal Prophylaxis and Breastfeeding Influence Bone Mass in Prepubertal Children

Calcagno Annalisa , Pala Giovanna , Allegri Anna Elsa Maria , Napoli Flavia , Fratangeli Nadia , Calevo Maria Grazia , Maghnie Mohamad , Di Iorgi Natascia

Background: The impact of prematurity on skeletal health later in life is not well elucidated.Objective and hypotheses: In order to address this topic we evaluated bone mass in ex-preterm (PT) and born at term (BT) prepubertal children and potential risk factors for bone health.Method: DXA measures of total body less head and lumbar spine mineral density (TB/L1-L4 BMD, g/cm2 and z-score), bone mineral content (T...

hrp0097p1-538 | Multisystem Endocrine Disorders | ESPE2023

Endocrine Late Effects In Survival Children With High-Risk Neuroblastoma From Italian Tertiary Hospital

Mirra Giulia , Deodati Annalisa , Ubertini Graziamaria , Elisa Amodeo Maria , Antonietta De Ioris Maria , Mastronuzzi Angela , Cavallo Federica , Grossi Armando

Background: The treatment of high-risk neuroblastoma still represents a clinical challenge in pediatric oncology. About 50% of children survive after a multimodal treatment based on conventional and high dose chemotherapy, surgery, radiotherapy, differentiating treatment and immunotherapy.Aim: To evaluate endocrine long-term sequels in a pediatric cohort with high-risk neuroblastoma.Patient...

hrp0098p1-113 | Adrenals and HPA Axis 2 | ESPE2024

A novel genetic variant in sphingosine-1-phosphate lyase causing primary adrenal insufficiency and inborn error of immunity

Elisa Amodeo Maria , Profeti Elisa , Rivalta Beatrice , Deodati Annalisa , Agolini Emanuele , Finocchi Andrea , Cotugno Nicola , Palma Paolo , Cianfarani Stefano

Background: Multiple autosomal recessive genes have been linked to primary adrenal insufficiency (PAI). Recently, sphingosine-1-phosphate lyase 1 (SGPL1) gene mutations were recognized as a cause of sphingolipidosis with multisystemic manifestations, including PAI. Sphingosine phosphate lyase (SGPL1) insufficiency syndrome (SPLIS) is characterized by steroid-resistant nephrotic syndrome, primary adrenal insufficiency (PAI), neurological deterioration, immunode...

hrp0098p1-160 | GH and IGFs 2 | ESPE2024

Systematic Approach To Define Clinically Significant Variants of Unknown Significance (VUS) in Children With Short Stature

Deodati Annalisa , Mirra Giulia , Pampanini Valentina , Fausti Francesca , Ruta Rosario , Mucciolo Mafalda , Ubertini Graziamaria , Novelli Antonio , Cianfarani Stefano

Background: Next generation sequencing (NGS) has recently been proposed as a primary diagnostic tool in the work-up of children with idiopathic short stature (ISS) and born small for gestational age (SGA). The main limitation of a multi-gene approach is represented by the difficulty in the interpretation of VUS clinical significance.Aim: To identify and characterize genetic variants in a cohort of children born SGA and I...