The decreased enzymatic activities of CYP21A2, CYP17A1, and CYP19A1 caused by POR mutations may lead to elevated 17OHP, progesterone (P), low estradiol (E2), and T, normal or elevated mineral corticoid such as deoxycorticosterone (DOC) level and normal or low levels of cortisol, which may show inadequate responsiveness to ACTH stimulation suggestive of partial adrenal insufficiency (13, 37). This evidence concerns the gene POMC and Adrenal insufficiency.