Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.
Age of Onset
Autosomal dominant ?A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease
Autosomal recessive ?Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype
X-linked dominant ?X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.
X-linked recessive ?Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder
Mitochondrial or multigenic ?Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.
Multigenic or multifactor ?Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.
Other Names (AKA)
Classic 21-OHD CAH
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 hair growth rate||
Abnormality of pace of hair growth
Abnormality of speed of hair growth
[ more ]
|Accelerated bone age after puberty||0002805|
|Decreased circulating aldosterone level||
Low blood aldosterone level
|Decreased circulating cortisol level||
Low blood cortisol level
|Elevated circulating follicle stimulating
|Elevated circulating luteinizing hormone level||0011969|
|Enlarged polycystic ovaries||
Enlarged ovaries with cysts
[ more ]
Elevated serum potassium levels
Low blood sodium levels
Low blood pressure
Depleted blood volume
|Increased circulating ACTH level||
High blood corticotropin levels
|Increased circulating androgen level||0030348|
|Increased circulating renin level||
Elevated blood renin level
Low blood sugar in newborn
Decreased body height
[ more ]
|30%-79% of people have these symptoms|
|Abnormal oral glucose tolerance||0004924|
|Abnormal scrotal rugation||0012856|
|Abnormality of circulating leptin level||0004361|
|Adrenocorticotropic hormone excess||0011749|
|Ambiguous genitalia, female||
Atypical appearance of female genitals
|Aortic root aneurysm||
Bulge in wall of root of large artery that carries blood away from heart
|Decreased fertility in females||
Reduced fertility in females
|Decreased fertility in males||0012041|
|Female sexual dysfunction||0030014|
|Fused labia minora||
Fused inner lips
Increased genital pigmentation
Having too much body fat
|Urogenital sinus anomaly||0100779|
|5%-29% of people have these symptoms|
|Adrenal medullary hypoplasia||0008239|
[ more ]
|Ectopic adrenal gland||
Abnormal adrenal gland position
|Failure to thrive||
[ more ]
Enlarged male breast
Body fails to respond to insulin
Mental retardation, nonspecific
[ more ]
|Maternal virilization in pregnancy||0008072|
|Renal salt wasting||
Loss of salt in urine
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
- Baby's First Test is the nation's
newborn screeningeducation center for families and providers. This site provides information and resources about screeningat the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
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
Differential diagnoses include other forms of CAH, polycystic ovary syndrome (PCOS, see these terms) or any diseases with androgen excess.
Visit the Orphanet disease page for more information.
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.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- Congenital Adrenal Hyperplasia. National Organization of Rare Disorders (NORD). Updated 2018; . https://rarediseases.org/rare-diseases/congenital-adrenal-hyperplasia/.
- Nimkarn A, Gangishetti PK, Yau M, New MI. 21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia. GeneReviews. Updated Feb 4, 2016; https://www.ncbi.nlm.nih.gov/books/NBK1171/.
- New M, Yau M, Lekarev O, Lin-Su K, Parsa A, Pina C, et al. Congenital Adrenal Hyperplasa. In: Endotext [Internet]. South Dartmouth (MA): MDText.com, Inc.; 2000–. Updated Mar 15, 2017; https://pubmed.ncbi.nlm.nih.gov/25905188/.
- Merke DP. Genetics and clinical presentation of classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency. UpToDate. Updated Feb 28, 2020; https://www.uptodate.com/contents/genetics-and-clinical-presentation-of-classic-congenital-adrenal-hyperplasia-due-to-21-hydroxylase-deficiency.