hrp0094p2-70 | Bone, growth plate and mineral metabolism | ESPE2021

Phenotype characterization of a PHEX intron mutation in an Italian family affected by X linked hypoposphatemic rickets.

Aiello Francesca , Schiano di Cola Roberta , Luongo Caterina , Maltoni Giulio , Cassio Alessandra , Festa Adalgisa , Pasquali Daniela , Del Giudice Emanuele Miraglia , Grandone Anna ,

Introduction: X-linked hypophosphatemia (XLH) is a rare hereditary condition caused by mutation in the gene encoding the phosphate-regulating endopeptidase homolog, X-linked (PHEX). It is characterized by altered phosphate homeostasis with persistent hypophosphatemia and hyperphosphaturia resulting in deficient skeletal mineralization, rickets, bone deformity, growth failure, dental problems, joint pain and impairment.Case Prese...

hrp0094p2-321 | Growth and syndromes (to include Turner syndrome) | ESPE2021

Alterations in Metabolic profile and Body Composition in children with Silver Russell syndrome

PATTI Giuseppa , Malerba Federica , Schiavone Maurizio , GRAZIA CALEVO MARIA , Casalini Emilio , Fava Daniela , Napoli Flavia , Allegri Anna , Di Iorgi Natascia , Maghnie Mohamad ,

There is little information on metabolic profiles and Body Composition in children with Silver-Russell syndrome (SRS).Methods: 31 SRS patients [16 subjects with 11p15 loss of methylation (11pLOM) and 15 subjects with maternal uniparental disomy of chromosome 7 (mUPD7); mean age 7.4±4.3 years] and non-SRS subjects [34 small for gestational age (SGA), 13.4±2.7 years, and 44 appropriate for gestational age (AGA), 6.9 ± 1.4 ye...

hrp0097fc4.5 | Growth and syndromes (to include Turner syndrome) | ESPE2023

From thalidomide embryopathy to genetic defects of the upper limb, internal organs, cerebral midline, and pituitary: The phenotypic spectrum of SALL4

Kodytková Aneta , Anne Amaratunga Shenali , Zemková Daniela , Maratová Klára , Dušátková Petra , Plachý Lukáš , Průhová Štěpánka , Koloušková Stanislava , Lebl Jan

Introduction: In 1950s - 1960s, the thalidomide disaster resulted in congenital malformations in more than 10,000 children. Derivative of thalidomide interferes with early embryonic transcriptional regulation due to selective degradation of SALL4 protein and thus, thalidomide embryopathy phenocopies pathogenic variants of the SALL4 gene. Their phenotypes range from phocomelia, reduced radial ray, to defects of the heart, kidneys, eye, and cerebral mid...

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...

hrp0097p1-17 | Bone, Growth Plate and Mineral Metabolism | ESPE2023

Dual-X-ray-Absorptiometry (DXA) bone parameters in children with Achondroplasia

Angelelli Alessia , Fava Daniela , Elsa Maria Allegri Anna , Casalini Emilio , Napoli Flavia , Ridella Francesca , Tedesco Caterina , Maghnie Mohamad , Di Iorgi Natascia

Achondroplasia is the most common skeletal dysplasia caused by a gain of function of the fibroblast growth factor receptor 3(FGFR3) that impairs endochondral ossification, exiting in short stature and altered bone microarchitecture. Although fractures and reduced bone mineralization are not comorbidities frequently reported, specific normative DXA data are lacking. Aim of the study was to assess bone density parameters in an Achondroplasia cohort. Fifty-seven patients (Female-...

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...

hrp0098rfc2.1 | Bone, Growth Plate and Mineral Metabolism | ESPE2024

Bone and Body Composition after one year of Vosorotide treatment in children with Achondroplasia: a longitudinal prospective study.

Angelelli Alessia , Elsa Maria Allegri Anna , Tedesco Caterina , Maiorano Nadia , Zucconi Alice , Repetto Agnese , Gizzi Gilda , Napoli Flavia , Casalini Emilio , Fava Daniela , Mohamad Maghnie , Di Iorgi Natascia

Background: Bone and body composition data in Achondroplasia (Ach) treated or not with vosorotide are lacking.Aim: To assess longitudinally body composition and bone markers in children with Ach during Vosorotide treatment (V-Tx).Method: Twenty-one patients (F=11, M=10) underwent DXA evaluation before (T0) and after 12 months of V-Tx (T12): bone mineral density-BMD (g/cm2</sup...

hrp0098p1-138 | Fat, Metabolism and Obesity 2 | ESPE2024

Enhanced Metabolic Profiles Following Exercise Training in Children

Rossi Virginia , Giovanelli Luca , Bernardelli Giuseppina , Facchetti Simone , Malacarne Mara , Vandoni Matteo , Carnevale Pellino Vittoria , Lucini Daniela , Zuccotti Gianvincenzo , Calcaterra Valeria

Aim: To evaluate whether a straightforward assessment like the Six-Minute Walking Test (6MWT) can effectively gauge the impact of an online supervised training program on lipid and glucose metabolism in a cohort of children with obesity, given the efficacy of exercise-based interventions in influencing the pathogenic processes underlying obesity-related complications.Methods: A group of 35 Caucasian children aged 8-13 wi...