21-hydroxylase deficiency surgery

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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Ahmad Al Maradni, M.D. [2]

Overview

Surgery is not the first-line treatment option for patients with 21-hydroxylase deficient congenital adrenal hyperplasia. Surgical reconstruction of abnormal genitalia is usually reserved for severely virilized girls.

Surgery

Early-onset: Severe 21-hydroxylase deficient congenital adrenal hyperplasia

Reconstructive surgery

Surgery is not recommended for genetically male (XY) infants because the excess androgens do not produce anatomic abnormality. However, surgery for severely virilized XX infants is often performed and has become a subject of debate in the last decade.

Surgical reconstruction of abnormal genitalia has been offered to parents of severely virilized girls with congenital adrenal hyperplasia since the first half of the 20th century. The purposes of surgery have generally been a combination of:

  1. to make the external genitalia look more female than male
  2. to make it possible for these girls to participate in normal sexual intercourse when they grow up
  3. to improve their chances of fertility
  4. to reduce the frequency of urinary infections

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