ContentsSynopsisCodesDifferential Diagnosis & PitfallsBest TestsReferencesView all Images (2)
11-beta-hydroxylase deficiency
Print
Other Resources UpToDate PubMed

11-beta-hydroxylase deficiency

Print Images (2)
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.
For more information, see OMIM.

Codes

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

SNOMEDCT:
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.

Best Tests

Subscription Required

References

Subscription Required

Last Updated: 08/01/2017
Copyright © 2018 VisualDx®. All rights reserved.
11-beta-hydroxylase deficiency
Print 2 Images
View all Images (2)
(with subscription)
11-beta-hydroxylase deficiency : Virilization, BP increased, Na decreased, K decreased
Copyright © 2018 VisualDx®. All rights reserved.