ESPE Abstracts

ESPE Abstracts

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hrp0095p1-539 | Multisystem Endocrine Disorders | ESPE2022

Rett Syndrome Patients: Do They need Pediatric Endocrinologist’s care?

Pepe Giorgia , Corica Domenico , Coco Roberto , Di Rosa Gabriella , Aversa Tommaso , Wasniewska Malgorzata

Background: systematic data about endocrinopathies in Rett syndrome (RTT) patients are still scarce and not univocal.Objective: to assess the prevalence of endocrinopathies in a pediatric population of RTT patients.Design: retrospective observational single center study.Methods: 29 caucasian patients (28 girls,1 boy) with genetically confirme...
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hrp0097p1-532 | Multisystem Endocrine Disorders | ESPE2023

Prevalence of endocrinopathies in a cohort of patients with Rett syndrome: a double center observational study

Pepe Giorgia , Stagi Stefano , Corica Domenico , Coco Roberto , Di Rosa Gabriella , Bossowski Filip , Skorupska Magdalena , Aversa Tommaso , Wasniewska Malgorzata

Objective: to assess the prevalence of endocrinopathies in a pediatric population of Rett syndrome (RTT) patients.Design: retrospective observational double center study.Methods: 51 caucasian patients (47 girls, 4 boy) with genetically confirmed diagnosis of RTT were enrolled (mean age: 9.65±5.9 years, range: 1-18 years). The patients were referred from the Rett Center of two It...
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