11-deoxycortisol is not converted to cortisol, accumulated precursors are converted into androgens. In addition deoxycorticosterone is not converted into corticosterone causing hypertension and hypokalemia. In 17-hydroxylase deficiency there is a diminished secretion of glucocorticoids and sex steroids. The precursors are therefore converted into aldosterone causing aldosteronism. The deficiency in androgens leads to pseudohermaphroditism in these cases.
Untreated females have sexual infantilism.
Adrenals are very enlarged and have a cerebriform aspect. Microscopically they exhibit nodular hyperplasia. Most of these syndromes respond to corticosteroid replacement therapy, but the genital malformations must be corrected surgically. Non-functional cortical neoplasms. Bronchogenic carcinomas often metastasize to adrenal.