NR0B1 and hypogonadotropic hypogonadism: The human NR0B1 gene is located on the X chromosome at p21 and gives rise to 46,XY DSD/testicular dysgenesis through duplication of this region [86, 87]. NR0B1/DAX-1 mutations are associated with pathogenesis of adrenal hypoplasia congenita and hypogonadotropic hypogonadism.