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.
The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. If available, the list includes a rough estimate of how common a feature is (its frequency). Frequencies are based on a specific study and may not be representative of all studies. You can use the MedlinePlus Medical Dictionary for definitions of the terms below.
|Signs and Symptoms||Approximate number of patients (when available)|
|Abnormality of the urinary system||-|
|Accelerated skeletal maturation||-|
|Ambiguous genitalia, female||-|
|Autosomal recessive inheritance||-|
|Congenital adrenal hyperplasia||-|
|Decreased circulating aldosterone level||-|
|Decreased circulating renin level||-|
|Decreased testicular size||-|
|Hyperpigmentation of the skin||-|
|Hypoplasia of the uterus||-|
|Hypoplasia of the vagina||-|
|Precocious puberty in males||-|
Nonprofit support and advocacy groups bring together patients, families, medical professionals, and researchers. These groups often raise awareness, provide support, and develop patient-centered information. Many are the driving force behind research for better treatments and possible cures. They can direct people to research, resources, and services. Many groups also have experts who serve as medical advisors. Visit their website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD. Suggest an organization to add.
Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.
International Adrenal Cortex Conference “Adrenal 2010”
Wednesday, June 16, 2010 -
Friday, June 18, 2010
Location: San Diego, California
Description: This conference provided a forum for both new and established investigators to present their most recent work, highlighting new findings relevant to adrenal physiology, biochemistry and molecular biology, genetics, and medicine. It was anticipated that these discoveries would provide a framework for further understanding of the function of the adrenal gland and its contributions to health and disease.
Contact: Maria L. Dufau, M.D., Ph.D., firstname.lastname@example.org email@example.com
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research
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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? See answer