ESPE Yearbook of Paediatric Endocrinology

Brief Summary: This study identifies a novel cause for congenital adrenal hypoplasia and provides evidence that Wnt/β-catenin signaling plays an important role in the development of human adrenal cortex.Comment: Primary adrenal insufficiency (PAI) is a life-threatening condition characterized by the inability of the adrenal cortex to produce sufficient glucocorticoids and/or mineralocorticoids. The major cause of childhood-onset PAI is congenital ad...

Hum Mol Genet. 2022 May 10:ddac093. doi: 10.1093/hmg/ddac093. Online ahead of print. PMID: 35535691Brief Summary: This genome-wide association study (GWAS) of patients with thyroid dysgenesis identified a genetic risk locus for thyroid athyreosis and ectopy. In depth genetic analyses of the disease associated region suggested a new disease mechanism of thyroid dysgenesis mediated by impaired Wnt ...

Brief Summary: This study examined the incidence and risk factors for adrenal crisis (AC) in patients with pediatric-onset adrenal insufficiency (AI). AC occurs in a substantial number of children with AI, particularly in younger children due to their high number of infections.Comment: Adrenal crisis (AC) is a life-threatening complication in patients with adrenal insufficiency (AI) (1-4). The clinical features of AC are often nonspecific, and it may be ...