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 creatine metabolism | Very frequent (present in 80%-99% of cases) |
| Absence of secondary sex characteristics | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Decreased serum estradiol | Very frequent (present in 80%-99% of cases) |
| Decreased serum testosterone level | Very frequent (present in 80%-99% of cases) |
| Delayed puberty | Very frequent (present in 80%-99% of cases) |
| Delayed skeletal maturation | Very frequent (present in 80%-99% of cases) |
| Dysmenorrhea | Very frequent (present in 80%-99% of cases) |
| Elevated follicle stimulating |
Very frequent (present in 80%-99% of cases) |
| Elevated luteinizing hormone | Very frequent (present in 80%-99% of cases) |
| Enlarged polycystic ovaries | Very frequent (present in 80%-99% of cases) |
| Hypergonadotropic |
Very frequent (present in 80%-99% of cases) |
| Hypoplasia of the uterus | Very frequent (present in 80%-99% of cases) |
| Hypospadias | Very frequent (present in 80%-99% of cases) |
| Micropenis | Very frequent (present in 80%-99% of cases) |
| Very frequent (present in 80%-99% of cases) |
|
| Primary amenorrhea | Very frequent (present in 80%-99% of cases) |
| Primary gonadal insufficiency | Very frequent (present in 80%-99% of cases) |
| Sparse axillary hair | Very frequent (present in 80%-99% of cases) |
| Sparse body hair | Very frequent (present in 80%-99% of cases) |
| Sparse pubic hair | 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) |
| Adrenocorticotropic hormone excess | Frequent (present in 30%-79% of cases) |
| Aortic root dilatation | Frequent (present in 30%-79% of cases) |
| Cryptorchidism | Frequent (present in 30%-79% of cases) |
| Decreased circulating cortisol level | Frequent (present in 30%-79% of cases) |
| Decreased circulating renin 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) |
| Decreased testicular size | Frequent (present in 30%-79% of cases) |
| Generalized hyperpigmentation | Frequent (present in 30%-79% of cases) |
| Hyperaldosteronism | 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) |
| Increased circulating ACTH level | Frequent (present in 30%-79% of cases) |
| Abnormal |
Occasional (present in 5%-29% of cases) |
| Ambiguous genitalia, male | Occasional (present in 5%-29% of cases) |
| Failure to thrive | Occasional (present in 5%-29% of cases) |
| Female external genitalia in individual with 46,XY |
Occasional (present in 5%-29% of cases) |
| Occasional (present in 5%-29% of cases) |
|
| Male pseudohermaphroditism | Occasional (present in 5%-29% of cases) |
| Adrenal hyperplasia | - |
| Adrenogenital |
- |
| - | |
| Hypokalemic alkalosis | - |
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
The following diseases are related to 17-alpha-hydroxylase deficiency. If you have a question about any of these diseases, you can contact GARD.
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