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17-alpha-hydroxylase deficiency


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Other Names:
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency; Congenital adrenal hyperplasia type 5
Categories:
Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases; Congenital and Genetic Diseases; Endocrine Diseases; Female Reproductive Diseases; Kidney and Urinary Diseases; Male Reproductive Diseases; Metabolic disorders See More
This disease is grouped under:
Congenital adrenal hyperplasia

Summary Summary


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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.
Last updated: 10/1/2012

Symptoms Symptoms


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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.

Showing of 50 |
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
Showing of 50 |
Do you have more information about symptoms of this disease? We want to hear from you.
Last updated: 1/1/2021
Do you have updated information on this disease? We want to hear from you.

Find a Specialist Find a Specialist


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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


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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: contact@aiunited.org
    Website: http://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: contact@caresfoundation.org
    Website: http://www.caresfoundation.org
  • National Adrenal Diseases Foundation (NADF)
    P.O. Box 566
    Lake Zurich, IL 60047
    Telephone: +1-(847) 726-9010
    E-mail: nadfmail@nadf.us
    Website: https://www.nadf.us
Do you know of an organization? We want to hear from you.

Learn More Learn More


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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.

GARD Answers GARD Answers


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Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.
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