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©2013 UpToDate ® Print Email Synthetic defect in CYP17 (17-alpha-hydroxylase) deficiency Pathways of adrenal steroid synthesis. A synthetic defect in 17-alpha-hydroxylase leads to diminished cortisol synthesis, increased release of ACTH, accumulation of the mineralocorticoid deoxycorticosterone (leading to hypertension and hypokalemia) and diminished adrenal androgen and estrogen production (leading to hypogonadism in females and pseudohermaphroditism in males). 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.