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Disease Profile
Congenital adrenal hyperplasia
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.
7-10 / 100,000
Age of onset
All ages
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)
CAH
Summary
Symptoms
People affected by milder forms may not have any signs and symptoms of CAH during childhood. In these cases, a diagnosis may not be made until adolescence or adulthood when the affected person experiences early signs of puberty or fertility problems. Females with this type may have excessive facial or body hair; irregular menstrual periods; and/or acne.[4][1][2]
There are two main types of CAH: classic CAH, the more severe form, and a milder form called nonclassic CAH. For a detailed description of the signs and symptoms found in each type of CAH, please click here.[3]
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 metabolism/homeostasis |
Laboratory abnormality
Metabolism abnormality
[ more ] |
0001939 |
Accelerated skeletal maturation |
Advanced bone age
Early bone maturation
[ more ] |
0005616 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Female pseudohermaphroditism | 0010458 | |
Hypertension | 0000822 | |
Hypospadias | 0000047 | |
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 ] |
0001531 |
Feeding difficulties in infancy | 0008872 | |
Percent of people who have these symptoms is not available through HPO | ||
Abnormal thorax morphology |
Abnormality of the chest
|
0000765 |
Abnormality of the urinary system |
Urinary tract abnormalities
Urinary tract abnormality
Urinary tract anomalies
[ more ] |
0000079 |
Absent scrotum | 0008707 | |
Adrenal hyperplasia |
Enlarged adrenal glands
|
0008221 |
Adrenogenital syndrome | 0000840 | |
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ] |
0000062 |
Ambiguous genitalia, female |
Atypical appearance of female genitals
|
0000061 |
Autosomal recessive inheritance | 0000007 | |
Bifid scrotum |
Cleft of scrotum
|
0000048 |
Clitoral hypertrophy |
Enlarged clitoris
|
0008665 |
Congenital adrenal hyperplasia | 0008258 | |
Decreased circulating aldosterone level |
Low blood aldosterone level
|
0004319 |
Decreased circulating renin level | 0003351 | |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
Growth abnormality |
Abnormal growth
Growth issue
[ more ] |
0001507 |
Gynecomastia |
Enlarged male breast
|
0000771 |
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Hypoglycemia |
Low blood sugar
|
0001943 |
Hypokalemia |
Low blood potassium levels
|
0002900 |
Hypokalemic alkalosis | 0001949 | |
Hypoplasia of the uterus |
Small uterus
Underdeveloped uterus
[ more ] |
0000013 |
Hypoplasia of the vagina |
Underdeveloped vagina
|
0008726 |
Long penis |
Enlarged penis
|
0000040 |
Male pseudohermaphroditism | 0000037 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
Neonatal onset | 0003623 | |
Precocious puberty in males |
Early onset of puberty in males
|
0008185 |
Premature pubarche |
Premature pubic hair growth
|
0012411 |
Primary amenorrhea | 0000786 | |
Recurrent fever |
Episodic fever
Increased body temperature, episodic
Intermittent fever
[ more ] |
0001954 |
Renal salt wasting |
Loss of salt in urine
|
0000127 |
Short stature |
Decreased body height
Small stature
[ more ] |
0004322 |
Cause
- 21-hydroxylase deficiency is caused by mutations in the CYP21A2 gene
- 3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutations in the HSD3B2 gene
- 11-beta-hydroxylase deficiency is caused by mutations in the CYP11B1 gene
- Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene
- 17-hydroxylase deficiency is caused by mutations in the CYP17A1 gene
- Congenital lipoid adrenal hyperplasia is caused by mutations in the STAR gene
Most of these genes encode enzymes that the adrenal glands need to make one or more hormones. The adrenal glands are cone-shaped organs that sit on top of the kidneys and are responsible for releasing various types of hormones that the body needs to function. Mutations in these genes lead to deficient levels of enzymes which cause low levels of hormones such as cortisol and/or aldosterone and an overproduction of androgens (male hormones such as testosterone). Cortisol is a hormone that affects energy levels, blood sugar levels, blood pressure, and the body's response to stress, illness, and injury. Aldosterone helps the body maintain the proper level of sodium (salt) and water and helps maintain blood pressure. Irregular levels of these hormones lead to the signs and symptoms of CAH.[3][4]
Diagnosis
The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Newborn Screening
- An ACTion (ACT) sheet is available for this condition that describes the short-term actions a health professional should follow when an infant has a positive newborn screening result. ACT sheets were developed by experts in collaboration with the American College of Medical Genetics.
- An Algorithm flowchart is available for this condition for determining the final diagnosis in an infant with a positive newborn screening result. Algorithms are developed by experts in collaboration with the American College of Medical Genetics.
- Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
- The Newborn Screening Coding and Terminology Guide created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the links to below view details for this condition.
Congenital adrenal hyperplasia (due to 11-beta-hydroxylase deficiency)
Congenital adrenal hyperplasia (non-classical)
Congenital adrenal hyperplasia (salt-wasting)
Congenital adrenal hyperplasia (simple virilizing) - National Newborn Screening and Global Resource Center (NNSGRC) provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials.
Treatment
Girls with severe CAH who are born with ambiguous genitalia may undergo surgery to ensure proper function and/or to make the genitals look more female.[2][3][4]
For more information on the treatment of CAH, please click here.
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
|
---|
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.
|
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
-
Accord Alliance
531 Route 22 East #244
Whitehouse Station, NJ 08889
Telephone: 908-349-0534
Fax: 801-349-0534
E-mail: https://www.accordalliance.org/contact/email-us.html
Website: https://www.accordalliance.org/ -
Adrenal Insufficiency United
Toll-free: 1-855-AIUnite (248-6483)
E-mail: [email protected]
Website: https://aiunited.org/ -
CAH Support Group
2 Windrush Close
Flitwick
Bedfordshire
MK45 1PX
United Kingdom
Telephone: 01525 717536
E-mail: https://www.livingwithcah.com/contact.html
Website: https://www.livingwithcah.com -
Congenital Adrenal Hyperplasia Research Education and Support (CARES) Foundation
2414 Morris Ave, Suite 110
Union, NJ 07083
Toll-free: 866-227-3737
E-mail: [email protected]
Website: https://www.caresfoundation.org -
National Adrenal Diseases Foundation (NADF)
P.O. Box 566
Lake Zurich, IL 60047
Telephone: +1-(847) 726-9010
E-mail: [email protected]
Website: https://www.nadf.us -
The MAGIC Foundation
4200 Cantera Dr. #106
Warrenville, IL 60555
Toll-free: 800-362-4423
Telephone: 630-836-8200
Fax: 630-836-8181
E-mail: [email protected]
Website: https://www.magicfoundation.org/
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.
Where to Start
- The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) provides information related to the health of children, adults, and families. Click on the link to view information on this topic.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- Genetics Home Reference (GHR) contains information on Congenital adrenal hyperplasia. This website is maintained by the National Library of Medicine.
21-hydroxylase deficiency
3-beta-hydroxysteroid dehydrogenase deficiency
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Cytochrome P450 oxidoreductase deficiency - The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
- The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents.
- The MAGIC Foundation provides information about this condition. The MAGIC Foundation provides support services for the families of children with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a child's growth.
In-Depth Information
- GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- 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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
21-hydroxylase deficiency
17-hydroxylase deficiency
11-beta-hydroxylase deficiency
3-beta-hydroxysteroid dehydrogenase deficiency
Congenital lipoid adrenal hyperplasia - Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital adrenal hyperplasia. Click on the link to view a sample search on this topic.
References
- Congenital adrenal hyperplasia. MedlinePlus. February 2014; https://www.nlm.nih.gov/medlineplus/ency/article/000411.htm.
- Congenital Adrenal Hyperplasia. National Organization of Rare Disorders (NORD). Updated 2018; . https://rarediseases.org/rare-diseases/congenital-adrenal-hyperplasia/.
- Congenital Adrenal Hyperplasia. Eunice Kennedy Shriver National Institute of Child Health and Human Development. July 2013; https://www.nichd.nih.gov/health/topics/cah/Pages/default.aspx.
- Thomas A Wilson, MD. Congenital Adrenal Hyperplasia. Medscape Reference. April 2014; https://emedicine.medscape.com/article/919218-overview.
- Congenital Adrenal Hyperplasia. Genetic Testing Registry. https://www.ncbi.nlm.nih.gov/gtr/conditions/C0001627/. Accessed 12/27/2014.
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