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Disease Profile
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.
1-9 / 100 000
Age of onset
Antenatal
ICD-10
E25.0
Inheritance
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.
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.
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.
Not applicable
Other names (AKA)
Classic 21-OHD CAH
Summary
Classic
Symptoms
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 | |
Acidosis | 0001941 | |
Adrenogenital |
0000840 | |
0008258 | ||
Decreased circulating aldosterone level |
Low blood aldosterone level
|
0004319 |
Decreased circulating cortisol level |
Low blood cortisol level
|
0008163 |
Dehydration | 0001944 | |
Elevated circulating follicle stimulating |
0008232 | |
Elevated circulating luteinizing hormone level | 0011969 | |
Enlarged polycystic ovaries |
Enlarged ovaries with cysts
|
0008675 |
Feeding difficulties |
Feeding problems
Poor feeding
[ more ] |
0011968 |
Hirsutism |
Excessive hairiness
|
0001007 |
Hyperkalemia |
Elevated serum potassium levels
|
0002153 |
Hypernatriuria | 0012605 | |
Hyponatremia |
Low blood sodium levels
|
0002902 |
Hypotension |
Low blood pressure
|
0002615 |
Hypovolemia |
Depleted blood volume
|
0011106 |
Increased circulating ACTH level |
High blood corticotropin levels
|
0003154 |
Increased circulating androgen level | 0030348 | |
Increased circulating renin level |
Elevated blood renin level
|
0000848 |
Irregular menstruation |
Menstrual irregularity
|
0000858 |
Neonatal |
Low blood sugar in newborn
|
0001998 |
0000939 | ||
Premature adrenarche | 0012412 | |
Decreased body height
Small stature
[ more ] |
0004322 | |
Vomiting |
Throwing up
|
0002013 |
30%-79% of people have these symptoms | ||
Abnormal oral glucose tolerance | 0004924 | |
Abnormal scrotal rugation | 0012856 | |
Abnormal spermatogenesis | 0008669 | |
Abnormality of circulating leptin level | 0004361 | |
Acne | 0001061 | |
Adrenocorticotropic hormone excess | 0011749 | |
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 fertility in females |
Reduced fertility in females
|
0000868 |
Decreased fertility in males | 0012041 | |
Female sexual dysfunction | 0030014 | |
Fused labia minora |
Fused inner lips
|
0000063 |
Generalized hyperpigmentation | 0007440 | |
Hyperpigmented genitalia |
Increased genital pigmentation
|
0030258 |
0000822 | ||
Long penis |
Enlarged penis
|
0000040 |
Obesity |
Having too much body fat
|
0001513 |
Urogenital sinus anomaly | 0100779 | |
5%-29% of people have these symptoms | ||
Adrenal medullary hypoplasia | 0008239 | |
Adrenocortical adenoma | 0008256 | |
Aggressive behavior |
Aggression
Aggressive behaviour
Aggressiveness
[ more ] |
0000718 |
Ectopic adrenal gland |
Abnormal adrenal gland position
|
0011742 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Female pseudohermaphroditism | 0010458 | |
Enlarged male breast
|
0000771 | |
Insulin resistance |
Body fails to respond to insulin
|
0000855 |
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] |
0001249 | |
Maternal virilization in pregnancy | 0008072 | |
Renal salt wasting |
Loss of salt in urine
|
0000127 |
Diagnosis
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.
Newborn Screening
- Baby's First Test is the nation's
newborn screening education center for families and providers. This site provides information and resources aboutscreening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
Related diseases
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.
|
Organizations
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.
Organizations Supporting this Disease
-
Adrenal Insufficiency United
Toll-free: 1-855-AIUnite (248-6483)
E-mail: contact@aiunited.org
Website: https://aiunited.org/ -
National Adrenal Diseases Foundation (NADF)
P.O. Box 566
Lake Zurich, IL 60047
Telephone: +1-(847) 726-9010
E-mail: nadfmail@nadf.us
Website: https://www.nadf.us
Learn more
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.
In-Depth Information
- 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.
References
- 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.