ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Genetics in Medicine 2018;20:583-590Maturity Onset Diabetes of the Young (MODY) is a heterogeneous group of monogenic forms of diabetes characterized by pancreatic beta-cell dysfunction, with autosomal dominant inheritance. Fourteen distinct MODY genetic subtypes have been identified. A definitive diagnosis of MODY is very challenging because of similar or overlapping cl...

Brief summary: This study aimed to decipher the pathophysiology of the lower prevalence of diabetic retinopathy observed among youth with T2D who also have severe obesity. None of the several biomarkers assessed was found to be associated with the obesity paradox. The biomarkers included: inflammatory factors, acute phase reactants or cytokines (VEGF, hsCRP, ICAM-1, VCAM-1, homocysteine, adiponectin, E-selectin, MCP-1, TNF-α, IL-6, fibrinogen, and ApoB).<p class="abst...

Brief Summary: Rare forms of diabetes (‘monogenic diabetes’) are caused by a single rare gene variant, while adult-onset T2D is influenced by thousands of common genetic variants. This study reveals that youth-onset T2D shares some genetic features with both monogenic and typical adult-onset T2D, marked by both common and rare genetic variantsComment: A significant challenge is understanding why the course of T2D in children and teenagers is mo...