ESPE Abstracts

Background: MODY can be mistaken for Diabetes type 1 or type 2.Objective: To evaluate genetic background in 22 patients presented with diabetes, negative islet cell antibodies, normal C-peptide and positive family history of diabetes. Genetic testing was done at Invitae laboratory and evaluated 28 genes for diagnosis of MODY.Results: Patients were divided into 2 groups: Group 1 wit...

Aim of the study: Correlate genetic data of patients heterozygous of PCSK1 gene variations with the clinical phenotype.Introduction: Heterozygous variants of the PCSK1 gene have been described in cases of early onset of morbid obesity in childhood. This gene encodes prohormone convertase 1/3 enzyme, a serine endoprotease expressed in neuroendocrine cells that converts inactive prohormones into functional hormones importa...