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||
|80%-99% of people have these symptoms|
|Abnormality of metabolism/homeostasis||
Metabolism abnormality[ more ]
|Accelerated skeletal maturation||
Advanced bone age
Early bone maturation[ more ]
Undescended testis[ more ]
|Increased circulating cortisol level||0003118|
|30%-79% of people have these symptoms|
|Failure to thrive in infancy||
Faltering weight in infancy
Weight faltering in infancy[ more ]
|Feeding difficulties in infancy||0008872|
|Percent of people who have these symptoms is not available through HPO|
|Abnormality of the thorax||
Abnormality of the chest
|Abnormality of the urinary system||
Urinary tract abnormalities
Urinary tract abnormality
Urinary tract anomalies[ more ]
Enlarged adrenal glands
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia[ more ]
|Ambiguous genitalia, female||
Atypical appearance of female genitals
Cleft of scrotum
|Congenital adrenal hyperplasia||0008258|
|Decreased circulating aldosterone level||
Low blood aldosterone level
|Decreased circulating renin level||0003351|
|Decreased testicular size||
Small testis[ more ]
Growth issue[ more ]
Enlarged male breast
|Hyperpigmentation of the skin||
Patchy darkened skin
Low blood sugar
Low blood potassium levels
|Hypoplasia of the uterus||
Underdeveloped uterus[ more ]
|Hypoplasia of the vagina||
Small penis[ more ]
|Precocious puberty in males||
Early onset of puberty in males
Premature pubic hair growth
|Renal salt wasting||0000127|
Decreased body height
Small stature[ more ]
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
In adult females a tumor of the ovaries or adrenal glands can mimic the clinical manifestations of CAH. Polycystic ovarian syndrome (PCOS) is another differential diagnosis.
Visit the Orphanet disease page for more information.
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.
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.