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 metabolism/homeostasis||90%|
|Accelerated skeletal maturation||90%|
|Displacement of the external urethral meatus||90%|
|Abnormality of the thorax||-|
|Abnormality of the urinary system||-|
|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||-|
|Renal salt wasting||-|
Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.
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.
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.
GARD Information Navigator
May 10, 2016
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
The following diseases are related to Congenital adrenal hyperplasia. If you have a question about any of these diseases, you can contact GARD.
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