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Disease Profile
17-alpha-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 / 1 000 000
Age of onset
Infancy
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)
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency; Congenital adrenal hyperplasia type 5
Categories
Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases;
Summary
Orpha Number: 90793
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 | ||
Abnormal circulating corticosterone level | 0012112 | |
Absence of secondary sex characteristics | 0008187 | |
0008258 | ||
Decreased serum estradiol | 0008214 | |
Decreased serum testosterone level |
Decreased serum testosterone levels
Low serum testosterone level
Low serum testosterone levels
[ more ] |
0040171 |
Delayed puberty |
Delayed pubertal development
Delayed pubertal growth
Pubertal delay
[ more ] |
0000823 |
Delayed skeletal maturation |
Delayed bone maturation
Delayed skeletal development
[ more ] |
0002750 |
Dysmenorrhea |
Painful menstruation
|
0100607 |
Elevated circulating follicle stimulating |
0008232 | |
Elevated circulating luteinizing hormone level | 0011969 | |
Enlarged polycystic ovaries |
Enlarged ovaries with cysts
|
0008675 |
Hypergonadotropic |
0000815 | |
Hypoplasia of the uterus |
Small uterus
Underdeveloped uterus
[ more ] |
0000013 |
Hypospadias | 0000047 | |
Micropenis |
Short penis
Small penis
[ more ] |
0000054 |
0000939 | ||
Primary amenorrhea | 0000786 | |
Primary gonadal insufficiency | 0008193 | |
Sparse axillary hair |
Limited armpit hair
Little underarm hair
[ more ] |
0002215 |
Sparse body hair | 0002231 | |
Sparse pubic hair |
Decreased sexual hair
|
0002225 |
30%-79% of people have these symptoms | ||
Abnormal circulating aldosterone |
Abnormal plasma aldosterone
|
0040085 |
Abnormal EKG |
Abnormal ECG
|
0003115 |
Adrenocorticotropic hormone excess | 0011749 | |
Aortic root aneurysm |
Bulge in wall of root of large artery that carries blood away from heart
|
0002616 |
Cryptorchidism |
Undescended testes
Undescended testis
[ more ] |
0000028 |
Decreased circulating cortisol level |
Low blood cortisol level
|
0008163 |
Decreased circulating renin level | 0003351 | |
Decreased fertility in females |
Reduced fertility in females
|
0000868 |
Decreased fertility in males | 0012041 | |
Decreased testicular size |
Small testes
Small testis
[ more ] |
0008734 |
Generalized hyperpigmentation | 0007440 | |
Hyperaldosteronism |
Elevated plasma aldosterone
Increased aldosterone
Increased aldosterone production
[ more ] |
0000859 |
0000822 | ||
Hypervolemia |
Fluid overload in blood
|
0011105 |
Hypokalemia |
Low blood potassium levels
|
0002900 |
Hypoplasia of the vagina |
Underdeveloped vagina
|
0008726 |
Increased circulating ACTH level |
High blood corticotropin levels
|
0003154 |
Decreased body height
Small stature
[ more ] |
0004322 | |
5%-29% of people have these symptoms | ||
Abnormal |
0012244 | |
Ambiguous genitalia, male |
Ambiguous genitalia in males
|
0000033 |
Failure to thrive |
Faltering weight
Weight faltering
[ more ] |
0001508 |
Female external genitalia in individual with 46,XY |
0008730 | |
Enlarged male breast
|
0000771 | |
Male pseudohermaphroditism | 0000037 | |
Percent of people who have these symptoms is not available through HPO | ||
Adrenal hyperplasia |
Enlarged adrenal glands
|
0008221 |
Adrenogenital |
0000840 | |
Ambiguous genitalia |
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia
[ more ] |
0000062 |
0000007 | ||
Hypokalemic alkalosis | 0001949 |
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: [email protected]
Website: https://aiunited.org/ -
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
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 17-alpha-hydroxylase deficiency. This website is maintained by the National Library of Medicine.
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.
- 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 17-alpha-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.