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)
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; Adrenal hyperplasia IV; Adrenal hyperplasia 4;
Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;
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.
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 renin level||0003351|
|Delayed skeletal maturation||
Delayed bone maturation
Delayed skeletal development
[ more ]
|Enlarged polycystic ovaries||
Enlarged ovaries with cysts
Elevated plasma aldosterone
Increased aldosterone production
[ more ]
|Increased circulating ACTH level||
High blood corticotropin levels
|Increased circulating androgen level||0030348|
|Renal salt wasting||
Loss of salt in urine
Increased body height
|30%-79% of people have these symptoms|
|Abnormal circulating aldosterone||
Abnormal plasma aldosterone
|Abnormality of prenatal development or birth||0001197|
|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 circulating cortisol level||
Low blood cortisol level
|Decreased fertility in females||
Reduced fertility in females
|Decreased fertility in males||0012041|
|Ectopic adrenal gland||
Abnormal adrenal gland position
|Female sexual dysfunction||0030014|
|Fused labia minora||
Fused inner lips
Increased genital pigmentation
Fluid overload in blood
Low blood potassium levels
|Hypoplasia of the vagina||
Decreased body height
[ more ]
|Urogenital sinus anomaly||0100779|
|5%-29% of people have these symptoms|
|Abnormality of the labia majora||
Abnormality of vaginal lips
[ more ]
Enlarged male breast
Elevated serum potassium levels
Low blood sodium levels
Depleted blood volume
|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 ]
|Accelerated skeletal maturation||
Advanced bone age
Early bone maturation
[ more ]
|Decreased testicular size||
[ more ]
|Hyperpigmentation of the skin||
Patchy darkened skin
|Hypoplasia of the uterus||
[ more ]
|Precocious puberty in males||
Early onset of puberty in males
- The Newborn Screening Coding and Terminology Guide has information on the standard codes used for
newborn screeningtests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.
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.
Congenital Adrenal Hyperplasia Research Education and Support (CARES) Foundation
2414 Morris Ave, Suite 110
Union, NJ 07083
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.
- MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
- MedlinePlus Genetics contains information on 11-beta-hydroxylase deficiency. This website is maintained by the National Library of Medicine.
- The Merck Manuals Online Medical Library provides information on this condition for patients and caregivers.
- 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 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.
- Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
- MeSH® (Medical Subject Headings) is a terminology tool used by the National Library of Medicine. Click on the link to view information on this topic.
- 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.
- 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 11-beta-hydroxylase deficiency. Click on the link to view a sample search on this topic.
- Section on Endocrinology and Committee on Genetics. Technical Report: Congenital Adrenal Hyperplasia. Pediatrics; 2000;106(6):1511-1518.
- Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Genetics Home Reference (GHR). March 2011; https://ghr.nlm.nih.gov/condition/congenital-adrenal-hyperplasia-due-to-11-beta-hydroxylase-deficiency. Accessed 5/16/2012.