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11-beta-hydroxylase deficiency
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11-beta-hydroxylase deficiency

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Contributors: Marilyn Augustine MD
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A genetic disorder of adrenal steroid biosynthesis caused by mutations in the human 11-beta-hydroxylase gene (CYP11B1), where the adrenal glands produce excess androgens. Accounts for 5%-8% of all cases of congenital adrenal hyperplasia (CAH). More common in Moroccan Jews living in Israel. There are two types of CAH due to 11-beta-hydroxylase deficiency: classic (more severe) and nonclassic.
  • Classic – Females have external genitalia that do not look clearly male or female, but internal reproductive organs develop normally. Males and females have early development of secondary sexual characteristics, including an early growth spurt that can lead to short stature in adulthood. Approximately two-thirds of patients have hypertension, which typically develops within the first year of life.
  • Nonclassic – Females have normal female genitalia but may develop excessive body hair growth and irregular menstruation. Males typically do not have any signs or symptoms except short stature. Hypertension is not a feature.
For more information, see OMIM.


E25.0 – Congenital adrenogenital disorders associated with enzyme deficiency

124214007 – 11-beta-hydroxylase deficiency

Differential Diagnosis & Pitfalls

Differential diagnosis for a young girl with virilization and elevated 17-hydroxyprogesterone includes nonclassic 21-hydroxylase deficiency, 11-beta-hydroxylase deficiency, and 3-beta-hydroxysteroid dehydrogenase deficiency.

Basal and cosyntropin-stimulated serum 11-deoxycortisol concentrations are elevated in 11-beta-hydroxylase deficiency and can be used to differentiate.

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Last Updated: 08/01/2017
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11-beta-hydroxylase deficiency
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11-beta-hydroxylase deficiency : Virilization, BP increased, Na decreased, K decreased
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