ESPE Yearbook of Paediatric Endocrinology

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...

Homozygous familial hypercholesterolemia (HoFH) is a severe disorder caused by genetic mutations in LDLR (encoding the LDL receptor), APOB or PCSK9. LDL-C levels in HoFH are extremely elevated)>400 mg/dL(even in utero, leading to cardiovascular events, and disability or death during childhood and adolescence. Conventional medications have minimal efficacy, since LDL-C levels cannot be reduced through upregulation of hepatic LDL receptors.<p c...

Brief summary: A significant increase in the incidence T2D occurred in the USA during the COVID-19 pandemic, particularly among children with obesity and males.Comment: This is the first multicenter report on the incidence of T2D during the first year of the COVID-19 pandemic in the USA. The average number of new diagnoses per year in the two pre-pandemic years was 825, compared with 1463 during the first pandemic year. This increase of 77% is significan...