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-hydroxylase, but in fact, mutations in this gene cause one form of congenital adrenal hyperplasia.2 Apparent mineralocorticoid excess is caused by inactivating mutations in the gene encoding 11
-hydroxysteroid dehydrogenase type 2,3 the microsomal enzyme that metabolizes cortisol into its receptor-inactive keto form, cortisone, in sodium-transporting epithelia, such as the kidney, and thus protects the nonselective mineralocorticoid receptor from occupation by cortisol itself.
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