Rare Rheumatology News

Disease Profile

11-beta-hydroxylase deficiency

Prevalence
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 / 1 000 000

331 - 2,979

US Estimated

1-9 / 1 000 000

514 - 4,622

Europe Estimated

Age of onset

Infancy

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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

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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

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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.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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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.

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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.

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Not applicable

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Other names (AKA)

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; Adrenal hyperplasia IV; Adrenal hyperplasia 4;

Categories

Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;

Summary

Congenital adrenal hyperplasia (CAH) due to 11-beta-hydroxylase deficiency is one of a group of disorders (collectively called congenital adrenal hyperplasia) that affect the adrenal glands. In this condition, the adrenal glands produce excess androgens (male sex hormones). This condition is caused by mutations in the CYP11B1 gene and is inherited in an autosomal recessive pattern. There are two types, the classic form and the non-classic form. Females with the classic form have ambiguous external genitalia with normal internal reproductive organs. Males and females with the classic form have early development of their secondary sexual characteristics (precocious puberty). The early growth spurt can prevent growth later in adolescence and lead to short stature in adulthood. About two-thirds of individuals with the classic form have high blood pressure which develops in the first year of life.[1]

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.[1]

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
Adrenocorticotropic hormone excess
0011749
Adrenogenital syndrome
0000840
Congenital adrenal hyperplasia
0008258
Decreased circulating aldosterone level
Low blood aldosterone level
0004319
Decreased circulating renin level
0003351
Delayed skeletal maturation
Delayed bone maturation
Delayed skeletal development

[ more ]

0002750
Enlarged polycystic ovaries
Enlarged ovaries with cysts
0008675
Hirsutism
Excessive hairiness
0001007
Hyperaldosteronism
Elevated plasma aldosterone
Increased aldosterone
Increased aldosterone production

[ more ]

0000859
Increased circulating ACTH level
High blood corticotropin levels
0003154
Increased circulating androgen level
0030348
Irregular menstruation
Menstrual irregularity
0000858
Osteoporosis
0000939
Premature adrenarche
0012412
Renal salt wasting
Loss of salt in urine
0000127
Tall stature
Increased body height
0000098
30%-79% of people have these symptoms
Abnormal circulating aldosterone
Abnormal plasma aldosterone
0040085
Abnormal EKG
Abnormal ECG
0003115
Abnormality of prenatal development or birth
0001197
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 circulating cortisol level
Low blood cortisol level
0008163
Decreased fertility in females
Reduced fertility in females
0000868
Decreased fertility in males
0012041
Ectopic adrenal gland
Abnormal adrenal gland position
0011742
Female sexual dysfunction
0030014
Fused labia minora
Fused inner lips
0000063
Generalized hyperpigmentation
0007440
Hyperpigmented genitalia
Increased genital pigmentation
0030258
Hypertension
0000822
Hypervolemia
Fluid overload in blood
0011105
Hypokalemia
Low blood potassium levels
0002900
Hypoplasia of the vagina
Underdeveloped vagina
0008726
Long penis
Enlarged penis
0000040
Short stature
Decreased body height
Small stature

[ more ]

0004322
Urogenital sinus anomaly
0100779
5%-29% of people have these symptoms
Abnormality of the labia majora
Abnormality of vaginal lips
0012881
Bilateral cryptorchidism
0008689
Feeding difficulties
Feeding problems
Poor feeding

[ more ]

0011968
Gynecomastia
Enlarged male breast
0000771
Hyperkalemia
Elevated serum potassium levels
0002153
Hypernatriuria
0012605
Hyponatremia
Low blood sodium levels
0002902
Hypovolemia
Depleted blood volume
0011106
Stroke
0001297
Vomiting
Throwing up
0002013
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 ]

0000079
Accelerated skeletal maturation
Advanced bone age
Early bone maturation

[ more ]

0005616
Autosomal recessive inheritance
0000007
Decreased testicular size
Small testes
Small testis

[ more ]

0008734
Hyperpigmentation of the skin
Patchy darkened skin
0000953
Hypoplasia of the uterus
Small uterus
Underdeveloped uterus

[ more ]

0000013
Neonatal onset
0003623
Precocious puberty in males
Early onset of puberty in males
0008185

Diagnosis

Yes. GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.

Newborn Screening

  • The Newborn Screening Coding and Terminology Guide has information on the standard codes used for newborn screening tests. Using these standards helps compare data across different laboratories. This resource was created by the National Library of Medicine.

    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

      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

      • 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.

        In-Depth Information

        • 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.

          Selected Full-Text Journal Articles

            References

            1. 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.

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