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11-beta-hydroxylase deficiency
Other Resources UpToDate PubMed

11-beta-hydroxylase deficiency

Contributors: Marilyn Augustine MD
Other Resources UpToDate PubMed

Synopsis

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.

Codes

ICD10CM:
E25.0 – Congenital adrenogenital disorders associated with enzyme deficiency

SNOMEDCT:
124214007 – 11-beta-hydroxylase deficiency

Differential Diagnosis & Pitfalls

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Last Updated:01/11/2022
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11-beta-hydroxylase deficiency
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A medical illustration showing key findings of 11-beta-hydroxylase deficiency : Virilization, BP increased, Na decreased, K decreased
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