Rare Pulmonology News

Disease Profile

17-alpha-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 17-alpha-hydroxylase deficiency; Congenital adrenal hyperplasia type 5

Categories

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

Summary

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
orphanet

Orpha Number: 90793

Definition
A very rare form of congenital adrenal hyperplasia (CAH) characterized by glucocorticoid deficiency, hypergonadotrophic hypogonadism and severe hypokalemic hypertension.

Epidemiology
It accounts for approximately 1% of all CAH cases. The prevalence is therefore around 1/1,000,000.

Clinical description
Both a sex steroid and glucocorticoid deficiency are present. Common manifestations include undervirilization in males, primary amenorrhea in females and lack of pubertal development in both sexes. Hypertension, often accompanied by hypokalemia, can also develop due to the mineralocorticoid excess seen in this disease.

Etiology
The disease is caused by a mutation in the CYP17A1 gene located on chromosome 10 q24.3.

Genetic counseling
The disease follows an autosomal recessive pattern of inheritance.

Visit the Orphanet disease page for more resources.

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
Congenital adrenal hyperplasia
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 hormone level
0008232
Elevated circulating luteinizing hormone level
0011969
Enlarged polycystic ovaries
Enlarged ovaries with cysts
0008675
Hypergonadotropic hypogonadism
0000815
Hypoplasia of the uterus
Small uterus
Underdeveloped uterus

[ more ]

0000013
Hypospadias
0000047
Micropenis
Short penis
Small penis

[ more ]

0000054
Osteoporosis
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
Hypertension
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
Short stature
Decreased body height
Small stature

[ more ]

0004322
5%-29% of people have these symptoms
Abnormal sex determination
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 karyotype
0008730
Gynecomastia
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 syndrome
0000840
Ambiguous genitalia
Ambiguous external genitalia
Ambiguous external genitalia at birth
Intersex genitalia

[ more ]

0000062
Autosomal recessive inheritance
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

    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