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...

hrp0098p1-21 | Diabetes and Insulin 1 | ESPE2024

A population preventive study of early detection of type 1 diabetes in asymptomatic children in the North-East region of Poland

Bossowski Artur , Noiszewska Klaudyna , Jamiołkowska-Sztabkowska Milena , Zasim Aneta , Polkowska Agnieszka , Bossowski Filip , Skorupska Magdalena , Buczyńska Angelika , Krętowski Adam , Sikora Tobiasz , Trzonkowski Piotr

Introduction: The population study of early detection of type 1 diabetes (T1D) in asymptomatic children in the Podlaskie region of Poland is an extension of the Pre-d1abetes Study conducted by our clinic between 2019 and 2023 in collaboration with 14 Polish diabetes centres. A total of 1288 patients aged between 7 months and 18 years were studied with positive family of T1D. Positive 3-screen ELISA values were observed in 112 patients (8.69%). During analysis ...