Females with the non-classic form of 11-beta-hydroxylase deficiency have normal female genitalia. As affected females get older, they may develop excessive body hair growth and irregular menstruation. Males with the non-classic form do not typically have any signs or symptoms except for short stature. High blood pressure is not a feature of the non-classic form.[1]
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 hair growth rate |
Abnormality of pace of hair growth
Abnormality of speed of hair growth
[ more ]
|
0011363 |
Accelerated bone age after puberty | 0002805 | |
Adrenocorticotropic |
0011749 | |
Adrenogenital |
0000840 | |
0008258 | ||
Decreased circulating aldosterone level |
Low blood aldosterone level
|
0004319 |
Decreased circulating renin level | 0003351 | |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ]
|
0002750 |
Enlarged polycystic ovaries |
Enlarged ovaries with cysts
|
0008675 |
Hirsutism |
Excessive hairiness
|
0001007 |
Hyperaldosteronism |
Elevated plasma aldosterone
Increased aldosterone
Increased aldosterone production
[ more ]
|
0000859 |
Increased circulating ACTH level |
High blood corticotropin levels
|
0003154 |
Increased circulating androgen level | 0030348 | |
Irregular menstruation |
Menstrual irregularity
|
0000858 |
0000939 | ||
Premature adrenarche | 0012412 | |
Renal salt wasting |
Loss of salt in urine
|
0000127 |
Tall stature |
Increased body height
|
0000098 |
30%-79% of people have these symptoms | ||
Abnormal circulating aldosterone |
Abnormal plasma aldosterone
|
0040085 |
Abnormal EKG |
Abnormal ECG
|
0003115 |
Abnormality of prenatal development or birth | 0001197 | |
Ambiguous genitalia, female |
Atypical appearance of female genitals
|
0000061 |
Aortic root aneurysm |
Bulge in wall of root of large artery that carries blood away from heart
|
0002616 |
Clitoral hypertrophy |
Enlarged clitoris
|
0008665 |
Decreased circulating cortisol level |
Low blood cortisol level
|
0008163 |
Decreased fertility in females |
Reduced fertility in females
|
0000868 |
Decreased fertility in males | 0012041 | |
Ectopic adrenal gland |
Abnormal adrenal gland position
|
0011742 |
Female sexual dysfunction | 0030014 | |
Fused labia minora |
Fused inner lips
|
0000063 |
Generalized hyperpigmentation | 0007440 | |
Hyperpigmented genitalia |
Increased genital pigmentation
|
0030258 |
0000822 | ||
Hypervolemia |
Fluid overload in blood
|
0011105 |
Hypokalemia |
Low blood potassium levels
|
0002900 |
Hypoplasia of the vagina |
Underdeveloped vagina
|
0008726 |
Long penis |
Enlarged penis
|
0000040 |
Decreased body height
Small stature
[ more ]
|
0004322 | |
Urogenital sinus anomaly | 0100779 | |
5%-29% of people have these symptoms | ||
Abnormality of the labia majora |
Abnormality of vaginal lips
|
0012881 |
Bilateral cryptorchidism | 0008689 | |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ]
|
0011968 |
Enlarged male breast
|
0000771 | |
Hyperkalemia |
Elevated serum potassium levels
|
0002153 |
Hypernatriuria | 0012605 | |
Hyponatremia |
Low blood sodium levels
|
0002902 |
Hypovolemia |
Depleted blood volume
|
0011106 |
Stroke | 0001297 | |
Vomiting |
Throwing up
|
0002013 |
Percent of people who have these symptoms is not available through HPO | ||
Abnormality of the urinary system |
Urinary tract abnormalities
Urinary tract abnormality
Urinary tract anomalies
[ more ]
|
0000079 |
Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ]
|
0005616 |
0000007 | ||
Decreased testicular size |
Small testes
Small testis
[ more ]
|
0008734 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Hypoplasia of the uterus |
Small uterus
Underdeveloped uterus
[ more ]
|
0000013 |
Neonatal onset | 0003623 | |
Precocious puberty in males |
Early onset of puberty in males
|
0008185 |
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. Submit a new question
I was recently diagnosed with 11-beta-hydroxylase deficiency. I have 3 children and 3 grandchildren. Is genetic testing available for this condition? Where can my family be tested? See answer