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Genetic and Rare Diseases Information Center (GARD)

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11-beta-hydroxylase deficiency


Other Names for this Disease
  • 11-alpha beta-hydroxylase deficiency
  • Adrenal hyperplasia 4
  • Adrenal hyperplasia hypertensive form
  • Adrenal hyperplasia IV
  • Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
More Names
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Your Question

I was recently diagnosed with 11-beta-hydroxylase deficiency. I have 3 children and 3 grandchildren. Is genetic testing available for this condition? Where can my family be tested? 


Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is 11-beta-hydroxylase deficiency?

Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (male sex hormones). This condition is caused by mutations in the CYP11B1 gene and is inherited in an autosomal recessive pattern. There are two types, the classic form and the non-classic form. Females with the classic form have ambiguous external genitalia with normal internal reproductive organs. Males and females with the classic form have early development of their secondary sexual characteristics (precocious puberty). The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. About two-thirds of individuals with the classic form have high blood pressure which develops in the first year of life.[1]

Females with the non-classic form of 11-beta-hydroxylase deficiency have normal female genitalia. As affected females get older, they may develop excessive body hair growth and irregular menstruation. Males with the non-classic form do not typically have any signs or symptoms except for short stature. High blood pressure is not a feature of the non-classic form.[1]

Last updated: 5/16/2012

How is 11-beta-hydroxylase deficiency inherited?

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.[1]
Last updated: 5/16/2012

Is genetic testing available for 11-beta-hydroxylase deficiency?

Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
Last updated: 5/16/2012

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:

Last updated: 11/28/2012

References