ESPE Abstracts

Background and aims: The introduction of next-generation sequencing (NGS) as an essential tool for the routine molecular diagnosis of DM has highlighted the under-diagnosis of monogenic diabetes mellitus (MonDM). Accurate molecular diagnosis of the MonDM subtype has important implications for prognosis and choice of treatment, family counseling and health management, enabling precision medicine. The main objective was to clinically and molecularly characterize...

Introduction: Polycystic kidney and diabetes syndrome (PCKDD) is an autosomal dominantly inherited disorder caused by HNF-1B mutations associated with a heterogeneous multisystemic phenotype mainly affecting kidney and pancreas, resulting in highly variable nephropathies, and frequently, diabetes diagnosed before the age of 25 yrs. Pancreatic hypoplasia, malformations in the genital tract and hepatic dysfunction may also be observed.<str...

Introduction: Neonatal Diabetes Mellitus (NDM) is characterised by severe hyperglycaemia, usually diagnosed in the first 6 months of life. Genetic diagnosis helps distinguishing between its different causes and between transient (TNDM) and permanent (PNDM) forms, with repercussions on the therapeutic approach and follow-up.Aim: Clinical and molecular characterisation of a series of NMD cases under endocrinological follow...

Background and Aims: HNF4A-MODY clinical expression is broad, ranging from hypoglycemic hyperinsulinism in the neonatal period and early childhood to hyperglycemia and diabetes, as insulin secretion progressively decreases in adult patients. The main objective was to clinically and molecularly characterize patients with glycemic alterations, negative autoimmunity and confirmed molecular diagnosis of HNF4A-MODY.Materials and Metho...

Background: IGF1 resistance syndrome (IGF1RS) is characterized by intrauterine and postnatal growth deficit with normal or supranormal IGF1 levels. Additional features may include intellectual deficit, microcephaly and dysmorphisms. IGF1RS may be caused by genomic or genetic defects affecting the IGF1R locus (15q26.3).Objective and hypotheses: To investigate the frequency of IGF1R mutations in a cohort of patients with pre- and/or postn...