ESPE Yearbook of Paediatric Endocrinology

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...