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: 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...