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]
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 hair growth rate | Very frequent (present in 80%-99% of cases) |
| Abnormality of the menstrual cycle | Very frequent (present in 80%-99% of cases) |
| Accelerated bone age after puberty | Very frequent (present in 80%-99% of cases) |
| Adrenocorticotropic |
Very frequent (present in 80%-99% of cases) |
| Adrenogenital |
Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Decreased circulating aldosterone level | Very frequent (present in 80%-99% of cases) |
| Decreased circulating renin level | Very frequent (present in 80%-99% of cases) |
| Delayed skeletal maturation | Very frequent (present in 80%-99% of cases) |
| Enlarged polycystic ovaries | Very frequent (present in 80%-99% of cases) |
| Hirsutism | Very frequent (present in 80%-99% of cases) |
| Hyperaldosteronism | Very frequent (present in 80%-99% of cases) |
| Increased circulating ACTH level | Very frequent (present in 80%-99% of cases) |
| Increased circulating androgen level | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Premature adrenarche | Very frequent (present in 80%-99% of cases) |
| Renal salt wasting | Very frequent (present in 80%-99% of cases) |
| Tall stature | Very frequent (present in 80%-99% of cases) |
| Abnormal circulating aldosterone | Frequent (present in 30%-79% of cases) |
| Abnormal EKG | Frequent (present in 30%-79% of cases) |
| Abnormality of prenatal development or birth | Frequent (present in 30%-79% of cases) |
| Ambiguous genitalia, female | Frequent (present in 30%-79% of cases) |
| Aortic root dilatation | Frequent (present in 30%-79% of cases) |
| Clitoral hypertrophy | Frequent (present in 30%-79% of cases) |
| Decreased circulating cortisol level | Frequent (present in 30%-79% of cases) |
| Decreased fertility in females | Frequent (present in 30%-79% of cases) |
| Decreased fertility in males | Frequent (present in 30%-79% of cases) |
| Ectopic adrenal gland | Frequent (present in 30%-79% of cases) |
| Female sexual dysfunction | Frequent (present in 30%-79% of cases) |
| Fused labia minora | Frequent (present in 30%-79% of cases) |
| Generalized hyperpigmentation | Frequent (present in 30%-79% of cases) |
| Hyperpigmented genitalia | Frequent (present in 30%-79% of cases) |
| Frequent (present in 30%-79% of cases) |
|
| Hypervolemia | Frequent (present in 30%-79% of cases) |
| Hypokalemia | Frequent (present in 30%-79% of cases) |
| Hypoplasia of the vagina | Frequent (present in 30%-79% of cases) |
| Long penis | Frequent (present in 30%-79% of cases) |
| Urogenital sinus anomaly | Frequent (present in 30%-79% of cases) |
| Abnormality of the labia majora | Occasional (present in 5%-29% of cases) |
| Bilateral cryptorchidism | Occasional (present in 5%-29% of cases) |
| Feeding difficulties | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Hyperkalemia | Occasional (present in 5%-29% of cases) |
| Hypernatriuria | Occasional (present in 5%-29% of cases) |
| Hyponatremia | Occasional (present in 5%-29% of cases) |
| Hypovolemia | Occasional (present in 5%-29% of cases) |
| Stroke | Occasional (present in 5%-29% of cases) |
| Vomiting | Occasional (present in 5%-29% of cases) |
| Abnormality of the urinary system | - |
| Accelerated skeletal maturation | - |
| - | |
| Decreased testicular size | - |
| Hyperpigmentation of the skin | - |
| Hypoplasia of the uterus | - |
| Neonatal onset | - |
| Precocious puberty in males | - |
Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.
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.
These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.
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August 10, 2017
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., dufaum@mail.nih.gov dufaum@mail.nih.gov
Co-funding Institute(s): National Institute of Child Health and Human Development, Office of Rare Diseases Research
The following diseases are related to 11-beta-hydroxylase deficiency. If you have a question about any of these diseases, you can contact GARD.
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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
