ESPE Abstracts

Background: Rubinstein-Taybi syndrome (RSTS) is a rare genetic syndrome characterized by postnatal growth retardation, intellectual disability, microcephaly, peculiar facial features, broad thumbs and big toes and other organs malformations. There are two forms: RSTS type 1 characterized by CREBBP gene mutations (16p13.3); RSTS type 2 dues to mutations/ deletions in EP300 gene (22q13.2). The type 2 is associated with mild phenotype with possible absence of the typical diagnost...

Background: In Italy monogenic forms of hyperglycemia account for more than 6% of cases referred to pediatric diabetes clinics. In January 2019 we started a Monogenic Diabetes Clinic (MDC) with the three main aims: a) implementing a standardized pathway towards genetic testing, 2) ease the revision of complex cases, 3) implement standardized therapies for monogenic diabetes mellitus (MDM) subtypes.Methods: Type 1 diabete...