11β-hydroxylase deficiency medical therapy

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

Overview

Treatment for 11β-hydroxylase deficiency in children is administration of glucocorticoids. The response to therapy should be monitored by laboratory tests and clinical findings. The treatment option in women is spironolactone. If pregnancy is not desired, spironolactone plus oral contraceptive pills can be combined with replacement doses of hydrocortisone. In adult males, replacement doses of hydrocortisone should be administered to avoid the development of adrenal rest tumors.

Medical Therapy

  • Genital malformations in females may require surgical correction with one or more surgeries and vaginal dilation.

References

  1. El-Maouche D, Arlt W, Merke DP (2017). "Congenital adrenal hyperplasia". Lancet. doi:10.1016/S0140-6736(17)31431-9. PMID 28576284.