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©2013 UpToDate ® Print Email Synthetic defect in CYP21A2 (21-hydroxylase) deficiency Pathways of adrenal steroid synthesis. A synthetic defect in 21-hydroxylase leads to diminished cortisol synthesis, increased release of ACTH, accumulation of 17-hydroxyprogesterone (particularly after the administration of ACTH), possible virilization due to increased androgen production, and possible salt-wasting due to diminished production of aldosterone and deoxycorticosterone. The numbers at the arrows refer to specific enzymes: 17α: 17α-hydroxylase (P450c17); 17,20: 17,20 lyase which is part of the P450c17 enzyme; 3β: 3β-hydroxysteroid dehydrogenase; 21: 21-hydroxylase (P450c21); 11β: 11β-hydroxylase; (P450c11); 18 refers to the two-step process of aldosterone synthase (P450c11as), resulting in the addition of an hydroxyl group that is then oxidized to an aldehyde group at the 18-carbon position; ?: unclear if pathway functions in vivo; DHEA: dehydroepiandrostenedione; 17KSR: 17-ketosteroid reductase; and A: aromatase.