11-beta-hydroxylase deficiency

Title

Other Names:

Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; Adrenal hyperplasia IV; Adrenal hyperplasia 4; Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency; Adrenal hyperplasia IV; Adrenal hyperplasia 4; Steroid 11-beta-hydroxylase deficiency; Adrenal hyperplasia hypertensive form; P450c11b1 deficiency; CAH due to 11-beta-hydroxylase deficiency; CYP11B1 deficiency See More

Categories:

Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases; Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases; Kidney and Urinary Diseases See More

This disease is grouped under:

Congenital adrenal hyperplasia

Summary 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]

Last updated: 5/16/2012

Symptoms 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.

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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
Abnormality of the menstrual cycle		0000140
Accelerated bone age after puberty		0002805
Adrenocorticotropic hormone excess		0011749
Adrenogenital syndrome		0000840
Congenital adrenal hyperplasia		0008258
Decreased circulating aldosterone level		0004319
Decreased circulating renin level		0003351
Delayed skeletal maturation	Delayed bone maturation Delayed skeletal development [ more ]	0002750
Enlarged polycystic ovaries		0008675
Hirsutism		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
Osteoporosis		0000939
Premature adrenarche		0012412
Renal salt wasting		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		0000061
Aortic root aneurysm		0002616
Clitoral hypertrophy	Enlarged clitoris	0008665
Decreased circulating 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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 10/1/2018

Do you have updated information on this disease? We want to hear from you.

Inheritance Inheritance

This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition.^[1]

Last updated: 5/16/2012

Diagnosis 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.

Last updated: 5/16/2012

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.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.

Organizations 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

Congenital Adrenal Hyperplasia Research Education and Support (CARES) Foundation
2414 Morris Ave, Suite 110
Union, NJ 07083
Toll-free: 866-227-3737
E-mail: contact@caresfoundation.org
Website: http://www.caresfoundation.org
National Adrenal Diseases Foundation (NADF)
P.O. Box 566
Lake Zurich, IL 60047
Telephone: (847) 726-9010
E-mail: nadfsupport@nadf.us
Website: http://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: contactus@magicfoundation.org
Website: https://www.magicfoundation.org/

Do you know of an organization? We want to hear from you.

Learn More 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

Genetics Home Reference (GHR) contains information on 11-beta-hydroxylase deficiency. This website is maintained by the National Library of Medicine.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
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

Section on Endocrinology and Committee on Genetics. Technical Report: Congenital Adrenal Hyperplasia. Pediatrics; 2000;106(6):1511-1518.

News & Events News & Events

News

NCATS Rare Diseases Are Not Rare! Challenge
October 9, 2018
The NIH Undiagnosed Diseases Network Expands
September 26, 2018

GARD Answers GARD Answers

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I was recently diagnosed with 11-beta-hydroxylase deficiency. I have 3 children and 3 grandchildren. Is genetic testing available for this condition? Where can my family be tested? See answer

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