17 alpha-hydroxylase deficiency medical therapy

Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Ammu Susheela, M.D. [2]

Overview

The mainstay of therapy for congenital adrenal hyperplasia due to 17 alpha-hydroxylase is glucocorticoid therapy.

Medical Therapy

• Hypertension and mineralocorticoid excess is treated with glucocorticoid replacement, as in other forms of congenital adrenal hyperplasia.
• Hydrocortisone is the drug of choice
• Most genetic females with both forms of the deficiency will need estrogen replacement therapy to induce puberty. Most will also need periodic progestin to regularize menses. Fertility is usually reduced because egg maturation and ovulation is poorly supported by the reduced intra-ovarian steroid production.
• The most difficult management decisions are posed by the more ambiguous genetic (XY) males. Most who are severely undervirilized, looking more like a female than a male, and therefor raised as such with surgical excision of the nonfunctional testes. If patients are raised as males, a brief course of testosterone can be given in infancy to induce growth of the penis. Surgery may be able to repair the hypospadias. The testes should be salvaged by orchiopexy if possible. Testosterone must be replaced in order for puberty to occur and continued throughout adult life.