Affected males may also have a shortage of male sex hormones, which leads to underdeveloped reproductive
The onset and severity of these signs and symptoms can vary, even among affected members of the same family.
This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.
|Medical Terms||Other Names||
|Percent of people who have these symptoms is not available through HPO|
|Absence of pubertal development||0008197|
Small adrenal glands
Absent sperm in semen
Undescended testis[ more ]
|Decreased circulating aldosterone level||
Low blood aldosterone level
|Decreased circulating cortisol level||
Low blood cortisol level
Delayed pubertal development
Delayed pubertal growth
Pubertal delay[ more ]
|Failure to thrive||
Weight faltering[ more ]
|Hyperpigmentation of the skin||
Patchy darkened skin
Low blood sodium levels
Low sperm count
Early onset of puberty
Early puberty[ more ]
|Renal salt wasting||
Loss of salt in urine
Some NR0B1 mutations result in the production of an inactive version of the DAX1 protein, while other mutations delete the entire gene. The resulting shortage of DAX1 disrupts the normal development and function of hormone-producing tissues in the body. The signs and symptoms of adrenal insufficiency and hypogonadotropic
In X-linked recessive inheritance, a female with one mutated copy of the gene in each cell is called a
If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.
If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.
You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.
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.
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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