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)|
|Primary adrenal insufficiency||90%|
|Sensorineural hearing impairment||7.5%|
|Abnormality of visual evoked potentials||-|
|Adrenocorticotropin receptor defect||-|
|Autosomal recessive inheritance||-|
|Hyperpigmentation of the skin||-|
|Motor axonal neuropathy||-|
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
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.
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.
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
Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new question
My 15 year old daughter was recently diagnosed with triple A syndrome. Is there anything that can be done about her abnormal sweating? We have tried various types of treatments and so far none have worked. See answer
I am trying to research current information for my friend who has been diagnosed with Triple A syndrome. She is looking for understandable information about the disease and possible treatment options. Is there recent information about what might help to treat neuropathy? How can we reach out to other people affected by the condition? How can we find out about current research that is being done to find better treatment alternatives? See answer
My son is 5 years old and has triple A syndrome. He has Addison's and alacrima, and we want to know if it is likely he will develop achalasia. What are the neurological effects of triple A syndrome and when could they affect him?