ESPE Abstracts

Introduction: NR0B1 gene encodes the DAX 1 protein, an untypical member of the orphan nuclear receptor superfamily. It plays a key role in the development and function of the adrenal glands and hypothalamic-pituitary-gonadal axis. Deleterious or intragenic mutations cause X –linked congenital adrenal hypoplasia manifested as primary adrenal insufficiency (PAI) in infancy or early childhood often combined with hypogonadotropic hypogonadism.<p class="a...