- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
- Adrenal hyperplasia IV
- Adrenal hyperplasia 4
- Steroid 11-beta-hydroxylase deficiency
- Adrenal hyperplasia hypertensive form
Your QuestionI 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?
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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.
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:
- GeneTests has a searchable directory of US and international genetics and prenatal diagnosis clinics.
- The National Society of Genetic Counselors provides a searchable directory of US and international genetic counseling services.
- The American College of Medical Genetics has a searchable database of US genetics clinics.
- The University of Kansas Medical Center provides a list of US and international genetic centers, clinics, and departments.
- The American Society of Human Genetics maintains a database of its members, which includes individuals who live outside of the United States. Visit the link to obtain a list of the geneticists in your country, some of whom may be researchers that do not provide medical care.
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Genetics Home Reference (GHR). March 2011; http://ghr.nlm.nih.gov/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency. Accessed 5/16/2012.