Synthetic defect in CYP21A2 (21-hydroxylase) deficiency

Pathways of adrenal steroid synthesis. A synthetic defect in 21OH 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. Reactions inside the red outline primarily occur outside the adrenals.

17α: 17α-hydroxylase (P450c17); 17,20: 17,20 lyase, which is an activity of the P450c17 enzyme; DHEA: dehydroepiandrosterone; 3βHSD2: 3β-hydroxysteroid dehydrogenase type 2; 21OH: 21-hydroxylase (P450c21); AS: the 3-step process of aldosterone synthase (P450c11as), resulting in the addition of hydroxyl groups at carbons 11 and 18, the latter of which is then oxidized to an aldehyde group; 11β1: 11β-hydroxylase; (P450c11); 17KSR: 17-ketosteroid reductase, which is the aldo-keto reductase K3 enzyme (AKR1C3); A: aromatase; 11HSD2: 11β-hydroxysteroid dehydrogenase type 2; ACTH: corticotropin.

Graphic 81907 Version 6.0

خرید پکیج

Synthetic defect in CYP21A2 (21-hydroxylase) deficiency