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 ...

To read the full abstract: J Clin Invest. 2020 Feb 3;130(2):641–654. doi: 10.1172/JCI127378. PMID: 31845906.Congenital pituitary hypoplasia (CPH) is a multifactorial disorder, in which the pituitary has not developed correctly. The underlying mechanisms are mostly unknown, and studies are limited by the lack of appropriate disease models. This work modelled the effect of a novel OTX2</e...