21-hydroxylase-deficient congenital adrenal hyperplasia
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21-hydroxylase-deficient congenital adrenal hyperplasia is a genetic disorder of cortisol biosynthesis. It is caused by mutations in the human 21-hydroxylase gene (CYP21A2).[1] Symptoms of 21-hydroxylase deficiency vary, but can involve salt-wasting crises in infants; ambiguous genitalia in female infants; excessive hair, deep voice, abnormal periods, no periods, and fertility problems in older girls and women; early development of masculine features in boys; and shorter than average adult height, acne, and blood pressure problems in both males and females.[2]
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- More Detailed Information (Found: 12 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
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Genetics Home Reference (GHR) contains a condition summary on 21-hydroxylase-deficient congenital adrenal hyperplasia. Click on the link to go to GHR and review this summary.
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The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss 21-hydroxylase-deficient congenital adrenal hyperplasia. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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PubMed is a searchable database of medical literature and lists journal articles that discuss 21-hydroxylase-deficient congenital adrenal hyperplasia. Click on the link to view a sample search on this topic.
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Save Babies Through Screening Foundation's Web site has an information page on congenital adrenal hyperplasia. Click on Save Babies Through Screening Foundation to view the information page.
- Management Guidelines
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GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- Selected Full-Text Journal Articles
- Newborn Screening
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The U.S. National Newborn Screening Status Report lists the status of newborn screening state by state and is available on the National Newborn Screening and Genetic Resource Center (NNSGRC) Web site. The NNSGRC provides information and resources in the area of newborn screening and genetics to benefit health professionals, the public health community, consumers and government officials. Click on the link above to view the report.
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An ACTion (ACT) sheet for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. ACT sheets are general guidelines that describe the short-term actions a health professional should follow in talking with the family and deciding the appropriate steps in the follow-up of an infant who has screened positive on a newborn screening test. Click on the link above to view the ACT sheet.
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An Algorithm for this condition has been developed by experts in collaboration with the American College of Medical Genetics, an organization providing education, resources and a voice for the medical genetics profession. Algorithms are general guidelines for healthcare providers outlining steps involved in determining the diagnosis of an infant who has screened positive on a newborn screening test. Click on the link above to view the Algorithm.
- Support Groups (Found: 13 Resources)
Groups providing a wide range of services, supportive resources, and information
- Umbrella Organizations
- Disease-Specific Organizations
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Intersex Society of North America
979 Golf Course Drive #282
Rohnert Park CA 94928
Fax: 801-348-5350
Web site: http://www.isna.org/
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Congenital Adrenal Hyperplasia Education and Support Network
19724 East Pine #149
Catossa, OK 74015
Web site: http://www.congenitaladrenalhyperplasia.org
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CARES Foundation, Inc. (Congenital Adrenal Hyperplasia, Research, Education and Support)
2414 Morris Ave, Suite 110
Union, NJ 07083
Toll-free: 1-866-227-3737
E-mail: contact@caresfoundation.org
Web site: http://www.caresfoundation.org
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National Adrenal Diseases Foundation
505 Northern Boulevard
Great Neck NY 11021
Phone: 516-487-4992
E-mail: NADFmail@aol.com
Web site: http://www.medhelp.org/nadf
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CAH Support Group
2 Windrush Close
Flitwick
Bedfordshire
MK45 1PX
Phone: 01525 717536
Web form: http://www.livingwithcah.com/contact.html
Web site: http://www.livingwithcah.com
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Save Babies Through Screening Foundation
4 Manor View Circle
Malvern, PA 19355-1622
Toll-Free: 1-888-454-3383
Fax: 610-647-5757
Email: email@savebabies.org
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Congenital Adrenal Hyperplasia Trust
New Zealand
PO Box 29-545
Fendalton Mall, Memorial Ave.
Christchurch, 8005
Phone: +64 3 3584 507
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CARES Foundation, Inc.
2414 Morris Avenue
Suite 110
Union, NJ 07083
Toll-free: 866-227-3737
Phone: 973-912-3895
Fax: 973-912-8990
Web form: http://www.every1cares.org/contact.html
Web site: http://www.every1cares.org/
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MUMS National Parent to Parent Network puts parents in touch with other parents who have children with this condition or similar symptoms.
MUMS National Parent to Parent Network
150 Custer Court
Green Bay, Wisconsin 54301-1243
Toll-free: 877-336-5333 (Parents only please)
Telephone: 920-336-5333
Fax: 1-920-339-0995
E-mail: mums@netnet.net
Web site: http://www.netnet.net/mums/
- Live Chat
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Clinical Trials & Research (Found: 1 Resource)
Resources where you may find research studies and clinical trials
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ClinicalTrials.gov lists trials that are studying or have studied 21-hydroxylase-deficient congenital adrenal hyperplasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- Services (Found: 1 Resource)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- Testing
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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.
- NLM Gateway
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.