ESPE Yearbook of Paediatric Endocrinology

To read the full abstract: Best Pract Res Clin Endocrinol Metab. 2020:101418. PMID: 32414619.Cushing’s syndrome (CS) is the constellation of signs and symptoms resulting from excessive exposure to cortisol (1). While exogenous CS is relatively common, endogenous CS accounts for only 2.3 to 3.2 new cases per million per year; 10% of these present in children (2–4). Endogenous CS is...

Brief Summary: This large patient cohort of children with endogenous Cushing syndrome describes their anthropometric, clinical, and biochemical characteristics, as well as their associated complications and outcomes. The findings inform diagnosis, treatment, and management.Comment: Endogenous Cushing syndrome is rare in children and adolescents, and has variable manifestations (1-6). This prospective, multicenter cohort of 342 children and adolescents ag...

To read the full abstract: J Endocr Soc 2017;1:1006-1011Besides its structural role in the extracellular matrix, aggrecan orchestrates a plethora of key mechanisms in endochondral ossification, such as embryonic morphogen distribution, regular indian hedgehog (IHH) / Sox9 expression and columnar chondrocyte orientation. Thus, homozygous loss-of-function mutations in the ACAN gene, encoding...