Here we review the clinical manifestations associated with DAX1 mutations as well as the evolving information about its function based on animal models and in vitro studies.Human StudiesClinical Features of AHCX-linked AHC is a disorder that presents in infancy with adrenal insufficiency and occurs in fewer than 1:12, 500 live births (Sikl, 1948, Mitchell and Rhaney, 1959, Dacou and Di George, 196