A novel mutation in DAX1 (NR0B1) causing X-linked adrenal hypoplasia congenita: clinical, hormonal and genetic analysis.

The association of primary adrenal insufficiency and hypogonadotropic hypogonadism is extremely infrequent in daily clinical practice. Differential diagnosis includes X-linked adrenal hypoplasia congenita, a genetic disease characterized by an alteration in the formation of the adrenal glands and the hypothalamus-pituitary-gonadal axis. The gene responsible is DAX1 (NR0B1).