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) |
| Decreased circulating cortisol level | Obligate (present in 100% of cases) |
| Anorexia | Very frequent (present in 80%-99% of cases) |
| Constipation | Very frequent (present in 80%-99% of cases) |
| Diarrhea | Very frequent (present in 80%-99% of cases) |
| Failure to thrive | Very frequent (present in 80%-99% of cases) |
| Fatigue | Very frequent (present in 80%-99% of cases) |
| Hyperpigmentation of the skin | Very frequent (present in 80%-99% of cases) |
| Increased circulating ACTH level | Very frequent (present in 80%-99% of cases) |
| Nausea and vomiting | Very frequent (present in 80%-99% of cases) |
| Weight loss | Very frequent (present in 80%-99% of cases) |
| Androgen insufficiency | Frequent (present in 30%-79% of cases) |
| Decreased circulating aldosterone level | Frequent (present in 30%-79% of cases) |
| Decreased urinary potassium | Frequent (present in 30%-79% of cases) |
| Hyperkalemia | Frequent (present in 30%-79% of cases) |
| Hyperkalemic metabolic acidosis | Frequent (present in 30%-79% of cases) |
| Hyperuricemia | Frequent (present in 30%-79% of cases) |
| Hyponatremia | Frequent (present in 30%-79% of cases) |
| Increased circulating renin level | Frequent (present in 30%-79% of cases) |
| Normocytic |
Frequent (present in 30%-79% of cases) |
| Renal salt wasting | Frequent (present in 30%-79% of cases) |
| Adrenal calcification | Occasional (present in 5%-29% of cases) |
| Adrenal hypoplasia | Occasional (present in 5%-29% of cases) |
| Arthralgia | Occasional (present in 5%-29% of cases) |
| Celiac disease | Occasional (present in 5%-29% of cases) |
| Decreased female libido | Occasional (present in 5%-29% of cases) |
| Delayed puberty | Occasional (present in 5%-29% of cases) |
| Dry skin | Occasional (present in 5%-29% of cases) |
| Generalized bone demineralization | Occasional (present in 5%-29% of cases) |
| Hashimoto thyroiditis | Occasional (present in 5%-29% of cases) |
| Hypercalcemia | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Hypoparathyroidism | Occasional (present in 5%-29% of cases) |
| Orthostatic hypotension | Occasional (present in 5%-29% of cases) |
| Premature ovarian insufficiency | Occasional (present in 5%-29% of cases) |
| Salt craving | Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Sparse axillary hair | Occasional (present in 5%-29% of cases) |
| Type I |
Occasional (present in 5%-29% of cases) |
| Vertigo | Occasional (present in 5%-29% of cases) |
| Vitiligo | Occasional (present in 5%-29% of cases) |
| Primary testicular failure | Very rare (present in 1%-4% of cases) |
| Thiamine-responsive megaloblastic anemia | Very rare (present in 1%-4% of cases) |
| Thymoma | Very rare (present in 1%-4% of cases) |
| Abnormality of skin pigmentation | - |
| Abnormality of the cardiovascular system | - |
| Adrenal insufficiency | - |
| Apnea | - |
| - | |
| Cyanosis | - |
| Feeding difficulties in infancy | - |
| Vomiting | - |
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.
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.
Don’t Miss the NCATS Toolkit for Patient-Focused Therapy Development Event
August 31, 2017
Funding Opportunities Now Available for the Undiagnosed Diseases Network (UDN) Phase II
August 30, 2017
IRDiRC Goals 2017-2027: New Rare Disease Research Goals for the Next Decade
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
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.
