Anne-MarieWith 17 Hydroxylase deficiency, the metabolic processes would get as far as making aldosterone no problem. However, he would still make high levels of androgen if not having glucocorticoid replacement possibly. If you look at the diagram below, you will see that the processes to make cortisol occur after 17 Hydroxylase and therefore 17 Hydroxylase deficient kids will not make it or will make it in a reduced amount. It would all depend on the severity or block again like 21 hydrolase deficiency. So whilst Jack does not need to take florinef, he needs cortisol replacement. I think possibly when a salt waster, that is where some kids seem to need extra cortisol for some reason. I’ve noted a great deal that the salt wasters are seemingly on higher doses than the non-salt wasters.
Enzymatic pathways for Cortisol and Aldosterone:
Desmolase 17-alpha-Hydroxylase C-17-Lyase Cholesterol ---------------------> Pregnenolone -----------------------> 17-oh-Pregnenolone -------------------> Dehydroepiandrosterone | | | 3-beta-oh-steroid
dehydrogenase| 3-beta-oh-steroid
dehydrogenase| 3-beta-oh-steroid
dehydrogenase| Progesterone 17-oh-Progesterone Androstenedione 21-Hydoxylase | 21-Hydroxylase | Peripheral tissues | Deoxycorticosterone 11-Deoxycortisol Testosterone 11-beta-Hydroxylase | 11-beta-Hydoxylase | Corticosterone Cortisol 18-Hydroxylase | 18-oh-Corticosterone 18-Oxidase | Aldosterone