hrp0095p1-330 | Growth and Syndromes | ESPE2022

The JAMP (Journey around Achondroplasia Medicines and Patients) Project: Results Collected From Two Surveys to clinicians and Patients in Italy

Antoniazzi Franco , Francesca Bedeschi Maria , Boero Silvio , LidonniciDario , Maghnie Mohamad , MoraStefano , Ravasio Roberto , Scarano Gioacchino , Selicorni Angelo , Sessa Marco , Verdoni Fabio , Zampino Giuseppe

Achondroplasia is a rare genetic condition caused by a recurrent pathogenetic variant in the FGFR3 gene resulting in short limb skeletal dysplasia. Due to the wide-ranging anomalies associated with achondroplasia (both peculiar clinical features and complications), a multidisciplinary team is often required for ongoing care, although the nature of specialists involved differs among countries. Despite a European consensus on principles for the management of achondropla...

hrp0097rfc3.2 | Fat, metabolism and obesity 1 | ESPE2023

Reduced central sensitivity to thyroid hormones in children and adolescents with overweight or obesity and impaired glucose tolerance.

Corica Domenico , Di Bonito Procolo , Rosaria Licenziati Maria , Di Sessa Anna , Miraglia Del Giudice Emanuele , Felicia Faienza Maria , Calcaterra Valeria , Franco Francesca , Maltoni Giulio , Valerio Giuliana , Wasniewska Malgorzata

Background: Thyroid hormones (TH) play multiple effects on glucose metabolism. Some recent studies carried out in adult patients suggested an association between altered sensitivity to TH and type 2 diabetes, obesity, and metabolic syndrome. No studies are currently available on the presence of altered sensitivity to the action of TH in youths with prediabetes.Objective: To evaluate the relationship between sensitivity t...

hrp0092p2-232 | Pituitary, Neuroendocrinology and Puberty | ESPE2019

Childhood Craniopharyngioma: Clinical Picture at Diagnosis in an Italian Multicentre Study

Menardi Rachele , Driul Daniela , Franco Francesca , Baronio Federico , Pozzobon Gabriella , Gallo Dario , Grossi Armando , Fintini Danilo , Parpagnoli Maria , Nardini Beatrice , Matarazzo Patrizia , Ibba Anastasia , Bruzzi Patrizia , Wasniewska Malgorzata , Salerno Mariacarolina , Fantini Jacopo , Zucchini Stefano

Diagnosis of craniopharyngiomas in childhood is often delayed due to nonspecific symptoms. In Italy all children are followed-up by paediatricians of the NHS and paediatric endocrinologists are present throughout the country. This would theoretically lead to an early diagnosis. We aimed to examine the clinical picture at diagnosis and duration of history before diagnosis in 117 patients (pts) followed-up at Endocrinology Centres belonging to the I.S.P.E.D..<p class="abstex...