Orpha Number: 90793
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 | Learn More: HPO ID |
|---|---|---|
| 80%-99% of people have these symptoms | ||
| Abnormality of creatine metabolism | 0012113 | |
| Absence of secondary sex characteristics | 0008187 | |
| 0008258 | ||
| Decreased serum estradiol | 0008214 | |
| Decreased serum testosterone level |
Decreased serum testosterone levels
Low serum testosterone level
Low serum testosterone levels
[ more ]
|
0040171 |
| Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ]
|
0000823 |
| Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
| Dysmenorrhea |
Painful menstruation
|
0100607 |
| Elevated circulating follicle stimulating |
0008232 | |
| Elevated circulating luteinizing hormone level | 0011969 | |
| Enlarged polycystic ovaries | 0008675 | |
| Hypergonadotropic |
0000815 | |
| Hypoplasia of the uterus |
Small uterus
Underdeveloped uterus
[ more ]
|
0000013 |
| Hypospadias | 0000047 | |
| Micropenis |
Short penis
Small penis
[ more ]
|
0000054 |
| 0000939 | ||
| Primary amenorrhea | 0000786 | |
| Primary gonadal insufficiency | 0008193 | |
| Sparse axillary hair |
Little underarm hair
|
0002215 |
| Sparse body hair | 0002231 | |
| Sparse pubic hair |
Decreased sexual hair
|
0002225 |
| 30%-79% of people have these symptoms | ||
| Abnormal circulating aldosterone |
Abnormal plasma aldosterone
|
0040085 |
| Abnormal EKG |
Abnormal ECG
|
0003115 |
| Adrenocorticotropic hormone excess | 0011749 | |
| Aortic root aneurysm |
Bulge in wall of root of large artery that carries blood away from heart
|
0002616 |
| Cryptorchidism |
Undescended testes
Undescended testis
[ more ]
|
0000028 |
| Decreased circulating cortisol level |
Low blood cortisol level
|
0008163 |
| Decreased circulating renin level | 0003351 | |
| Decreased fertility in females |
Reduced fertility in females
|
0000868 |
| Decreased fertility in males | 0012041 | |
| Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
| Generalized hyperpigmentation | 0007440 | |
| Hyperaldosteronism |
Elevated plasma aldosterone
Increased aldosterone
Increased aldosterone production
[ more ]
|
0000859 |
| 0000822 | ||
| Hypervolemia |
Fluid overload in blood
|
0011105 |
| Hypokalemia |
Low blood potassium levels
|
0002900 |
| Hypoplasia of the vagina |
Underdeveloped vagina
|
0008726 |
| Increased circulating ACTH level |
High blood corticotropin levels
|
0003154 |
|
Decreased body height
Small stature
[ more ]
|
0004322 | |
| 5%-29% of people have these symptoms | ||
| Abnormal |
0012244 | |
| Ambiguous genitalia, male |
Ambiguous genitalia in males
|
0000033 |
| Failure to thrive |
Faltering weight
Weight faltering
[ more ]
|
0001508 |
| Female external genitalia in individual with 46,XY |
0008730 | |
|
Enlarged male breast
|
0000771 | |
| Male pseudohermaphroditism | 0000037 | |
| Percent of people who have these symptoms is not available through HPO | ||
| Adrenal hyperplasia |
Enlarged adrenal glands
|
0008221 |
| Adrenogenital |
0000840 | |
| Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ]
|
0000062 |
| 0000007 | ||
| Hypokalemic alkalosis | 0001949 | |
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.
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.
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.
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.
