ESPE Abstracts

ESPE Abstracts

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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...
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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...
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hrp0098rfc5.3 | Growth and Syndromes | ESPE2024

Neuroradiological Findings in Noonan Syndrome: a multicentric Italian study

Patti Giuseppa , Gabriella Maiorano Nadia , Piccoli Francesca , Grazia Calevo Maria , Tamburrino Federica , Scarano Emanuela , Schiavarello Concetta , Orlandini Eleonora , Pozzobon Gabriella , Baldoli Cristina , Finamore Martina , Grandone Anna , Aiello Francesca , Cirillo Mario , Corica Domenico , Wasniewska Margherita , Cattoni Alessandro , Remida Paolo , Capalbo Donatella , Tortora Fabio , Azzolini Sara , Mansour Mariam , Felicia Faienza Maria , Palladino Stefano , Napoli Flavia , Angelelli Alessia , Di Iorgi Natascia , Rossi Andrea , Maghnie Mohamad , Severino Mariasavina

Background: Data on the neuroradiological findings in Noonan syndrome (NS) are limited.Study Design and participants: Multicentric retrospective observational study conducted in 9 Italian centers of Pediatric Endocrinology. Population includes 112 patients (62 males, 50 females; 73 PTPN11, 8 KRAS, 8 SOS1, 4 LZTR1, 4 RIT1, 4 SHOC2, 3 BRAF, 2 RAF1, 1 ERF, 1 HRAS, 1 MAP2K1, 1 MEK1, 1 PPP1CB, 1 RASA1) with diagnosis of NS ge...
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ESPE Abstracts

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