hrp0097p2-287 | Late Breaking | ESPE2023

Central diabetes insipidus in paediatric cerebral tumors: clinical and radiological features

Criscuolo Sabrina , Partenope Cristina , Bhushan Arya Ved , Albanese Assunta

Introduction: Paediatric brain tumours in the sellar-suprasellar region (SSR) are often associated with central diabetes insipidus (CDI), either at diagnosis caused by the tumour itself or during follow-up as consequence of treatments.Aims: To define the timing of CDI onset and radiological features on brain MRI in our cohort.Methods: We retrospectively analysed paediatric patients...

hrp0095p1-164 | Pituitary, Neuroendocrinology and Puberty | ESPE2022

Familial Central Precocious Puberty: a case of three siblings with MKRN3 mutation

d'Aniello Francesco , Ubertini Graziamaria , Elisa Amodeo Maria , Mirra Giulia , Criscuolo Sabrina , Mucciolo Mafalda , Fintini Danilo , Cappa Marco

Introduction: We report a series of three siblings, two girls and one boy, diagnosed with Central Precocious Puberty (CPP) respectively at the age of 5.66, 6.67 and 8.5 years, carrying a mutation in the gene encoding the makorin RING finger protein 3 (MKRN3), usually responsible for the development of familial CPP.Methods: We diagnosed CPP in all the patients by performing a GnRH test. We also dosed basal levels of LH, F...