Mutations in NR0B1 cause X-linked adrenal hypoplasia congenita, with associated HH, whereas mutations in NR5A1 are associated with 46,XY sex reversal or gonadal dysgenesis, and 46,XX is associated with premature ovarian insufficiency (88). The gene discussed is NR5A1; the disease is X-linked adrenal hypoplasia congenita.