ROLE OF STEROIDOGENIC ACUTE REGULATORY PROTEIN IN ADRENAL AND GONADALSTEROIDOGENESIS

Congenital lipoid adrenal hyperplasia is an autosomal recessive disord er that is characterized by impaired synthesis of all adrenal and gona dal steroid hormones. In three unrelated individuals with this disorde r, steroidogenic acute regulatory protein, which enhances the mitochon drial conversion of cholesterol into pregnenolone, was mutated and non functional, providing genetic evidence that this protein is indispensa ble for normal adrenal and gonadal steroidogenesis.