hrp0086p2-p934 | Thyroid P2 | ESPE2016

Thyroid Function in Children Affected By Congenital Hypothyroidism (CH) with Eutopic Thyroid After Discontinuation of Treatment with Levothyroxine

Poggi Elena , Gastaldi Roberto , Muraca Monica , Perri Katia , Pistorio Angela , Maghnie Mohamad

Objective and hypotheses: We analysed the prevalence of transient hypothyroidism in a cohort of children affected by CH with eutopic thyroid after Levothyroxine discontinuation.Method: 77 newborns (36 females, 41 males) affected by CH with eutopic thyroid from 1999 to 2011 were enrolled. The confirmation diagnosis of CH after screening was made within the first 15 days of life by assessing TSH value (mean 74.4±82.2 μU/ml n.v 0.5–4.2) and f...

hrp0086p1-p128 | Bone & 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 it’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...

hrp0098rfc11.2 | Fat, Metabolism and Obesity 2 | ESPE2024

Is the Single Point Insulin Sensitivity Estimator (SPISE) index a reliable tool for children and adolescents with overweight/obesity?

Tantari Giacomo , Bassi Marta , Pistorio Angela , Minuto Nicola , Napoli Flavia , Piccolo Gianluca , Spacco Giordano , d'Annunzio Giuseppe , Maghnie Mohamad

Introduction: Pediatric obesity is is increasing worldwide. Children and adolescents affected are at increased risk of Type 2 Diabetes Mellitus and its cardiovascular complications, starting in young adulthood and linked to insulin resistance and its inflammatory milieu. The SPISE index, calculated using baseline triglycerides, HDL cholesterol, and BMI, shows promise in predicting insulin resistance in this population. It is not affected by insulin secretion p...

hrp0094p1-159 | Fetal Endocrinology and Multisystem Disorders B | ESPE2021

Clinical features and body mineral density in Italian patients with rapid onset obesity with hypoventilation, hypothalamic dysfunction, autonomic disregulation and neural tumor (ROHHADNET): a single center observational study

Angelelli Alessia , Fava Daniela , Thiabat Hanan F. , Guglielmi Davide , Ceradelli Francesca Lorenzini , Maiorano Nadia Gabriella , Marasini Lucia , Pistorio Angela , Ceccherini Isabella , Napoli Flavia , Iorgi Natascia Di , Maghnie Mohamad ,

Background: ROHHAD (rapid-onset obesity with hypoventilation, hypothalamic dysfunction, autonomic dysregulation) syndrome is a rare and underdiagnosed disease with high mortality rate. When a neural crest tumor (NET) is detected (56% of patients) the acronym used is ROHHADNET.Aim: To analyze the relationship between clinical variables, hypothalamic-pituitary disorders, DXA parameters and neural tumors, in ROHHADNET patie...

hrp0097fc10.3 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

ROHHAD syndrome, thrombotic risk and endothelial damage: a single center experience.

Marcenaro Silvia , Napoli Flavia , Pistorio Angela , Angelelli Alessia , Fava Daniela , Susca Francesco , Giordano Benedetta , Caporotondi Benedetta , Tantari Giacomo , Camia Tiziana , d'Annunzio Giuseppe , Maghnie Mohamad

Background: ROHHAD/ROHHADNET syndrome (rapid-onset obesity with hypothalamic dysfunction, central hypoventilation, autonomic dysregulation with or without neural tumor - NET) – has been reported in association with cerebral venous thrombosis events, as reported also in central hypoventilation syndrome. It is not clear whether thrombotic risk represents a cause or a consequence of hypoventilation and hypothalamic dysfunction. Aim of our study was to chara...

hrp0097rfc10.4 | Fetal, neonatal endocrinology and metabolism (to include hypoglycaemia) & Multisystem endocrine disorders | ESPE2023

Clinical phenotypes of a multicentric cohort of ROHHAD patients

Napoli Flavia , Cerbone Manuela , Guftar Shaik M , Buonocore Federica , Angelelli Alessia , Fava Daniela , Tuli Gerdi , Pistorio Angela , T Dattani Mehul , Maghnie Mohamad

Background: ROHHAD syndrome (rapid-onset obesity with hypothalamic dysfunction, central hypoventilation, autonomic dysregulation) – also defined as ROHHADNET when associated with neural tumors - is a rare condition with a high mortality rate. The aim of this study is to describe the phenotypes of a multicentric cohort of ROHHAD patients.Patients and Methods: We retrospectively analyzed clinical data from 22 patient...

hrp0097p1-263 | Fat, Metabolism and Obesity | ESPE2023

Evaluating genotype-phenotype relations in pediatric obesity: a single centre experience.

Giordano Benedetta , Caporotondi Benedetta , Susca Francesco , Napoli Flavia , Fava Daniela , Casalini Emilio , Pistorio Angela , Tantari Giacomo , Camia Tiziana , d'Annunzio Giuseppe , Maghnie Mohamad

Background: Childhood-onset obesity is a multifactorial disease with a lifelong health burden. In many cases, obesity is the result of the interaction between genetic predisposition and environmental factors. Aim of our study was to define phenotypic features of obese children and adolescents and to find possible associations between clinical phenotype and genetic variants.Patients and Methods: We recruited obese childre...

hrp0097p2-19 | Growth and Syndromes | ESPE2023

Gonadotropin and Estradiol levels in Turner Syndrome: does an old dog teach new tricks?

Casalini Emilio , Fava Daniela , Alessia Angelelli , Patti Giuseppa , Napoli Flavia , Elsa Maria Allegri Anna , Gastaldi Roberto , Tedesco Caterina , Passarella Tommaso , Pistorio Angela , Maghnie Mohamad , Di Iorgi Natascia

Background: Hypergonadotropic hypogonadism (HH) is an hallmark of Turner Syndrome (TS) and hormone replacement therapy (HRT) is often required for pubertal induction; this retrospective study highlights the pituitary-gonadal axis during infancy (<5 years), childhood (5–10.9 years) and adolescence (> 11 years) in a cohort of TS patients enrolled between February 1999 to March 2023. Our aim is to underline the diagnostic role of Gonadotropins as a ma...

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&#...