17 alpha-hydroxylase deficiency medical therapy

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Mehrian Jafarizade, M.D [2]

The mainstay of therapy for 17 alpha-hydroxylase deficiency is glucocorticoid therapy. Spironolactone and estrogen may also be used.

The goal of therapy is: ^[1][2][3]

• Correct the effects of mineralocorticoid excess
• Prevent glucocorticoid deficiency
• Restore desired secondary sexual characteristics

• Treatment for 17 alpha-hydroxylase deficiency is by the use of glucocorticoids such as:
  • Preferred regimen (1): Hydrocortisone 10 to 25 mg/m2 body surface area/day PO.
  • Preferred regimen (2): Prednisolone 0.1 mg/kg/day PO.
  • Preferred regimen (3): Dexamethasone up to 0.5 mg/day PO.

• As all the patients are clinically female, spironolactone is the drug of choice to block the mineralocorticoid receptor:
  • Preferred regimen (1): Spironolactone 25 to 200 mg/day PO.

• Treatment should be monitored by:
  • Blood pressure
  • Deoxycorticosterone levels
  • Electrolytes

• At the time of expected puberty, estrogen replacement should be started.