ESPE Yearbook of Paediatric Endocrinology

J Clin Endocrinol Metab. 2021 Jul 13;106(8):2279-2290. doi: 10.1210/clinem/dgab331. PMID: 33982055.Brief Summary: This prospective birth cohort study assessed the impact of maternal glycaemia on infant neurodevelopment at 12 months of age. Maternal glucose levels during pregnancy were associated with infant neurodevelopmental outcomes.High maternal blood glucose levels m...

Brief summary: This ex vivo/ in vitro study describes a novel regulatory mechanism of androgen receptor (AR) gene transcription by intranuclear actin assembly in droplets upon dihydrotestosterone (DHT) stimulation mediated by DAAM2 (Dishevelled-associated activator of morphogenesis 2) gene.Androgen insensitivity syndrome (AIS) is a common etiology in individuals with 46, XY disorder/differences of sex development, AIS has diverse genita...

Brief summary: Two unrelated patients with a disorder of sex development (DSD) phenotype of partial androgen insensitivity (PAIS) showed heterozygous variants in the DAAM2 gene. Their genital skin fibroblasts showed reduced dihydrotestosterone-stimulated androgen receptor (AR) activity. Extensive basic studies revealed the underlying mechanism of the DSD in which DAAM2-regulated actin polymerization at the ligand-inducible androgen receptor is required for androgen-st...

To read the full abstract: Nat Comm 2019; 10(1): 1718Steroid receptor coactivator (SRC)-1 mediates nuclear hormone receptors and transcription factor-dependent transcription (1), and interacts with STAT3 (2) an important mediator of leptin-induced POMC expression and hence satiety (3). Src-1 knockout mice are obese (4), however, the underlying mechanism is unclear. In a...