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Genetic and Rare Diseases Information Center (GARD)


Other names people use for this condition
  • CAH
Home > Rare Diseases and Related Terms > Congenital adrenal hyperplasia



Congenital adrenal hyperplasia
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Questions & Answers (Found 1 Question)
A list of questions from the public on rare and/or genetic diseases that have been answered by the Genetic and Rare Disease Information Center. Click on each question to find the answer.
For more information about Congenital adrenal hyperplasia click on the boxes below:
More Detailed Information Organizations Services Scientific Conferences Clinical Trials & Research
 General | Management Guidelines | Selected Full-Text Journal Articles | Newborn Screening
More Detailed Information (Found 20 resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates. Disclaimer

  • General

    • Genetics Home Reference contains two condition summaries on this topic. Click on the links to go to GHR and review these summaries.
      21-hydroxylase deficiency
      3-beta-hydroxysteroid dehydrogenase deficiency
    • MedlinePlus, a Web site designed by the National Library of Medicine to help you research your health questions, provides more information about this topic. Click on the link to view this information.
    • Medscape Reference provides information on this topic. Click on the link to view this information. You may need to register to view the medical textbook, but registration is free.
    • The Merck Manuals Online Medical Library provides information on this condition. Click on the link to view the information.
    • 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 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.
    • The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss the different types of congenital adrenal hyperplasia. Click on the links below to go to OMIM and review these resources.
      21-hydroxylase deficiency
      17-hydroxylase deficiency
      11-beta-hydroxylase deficiency
      3-beta-hydroxysteroid dehydrogenase deficiency
      Congenital lipoid adrenal hyperplasia
    • 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.
    • PubMed is a searchable database of medical literature and lists journal articles that discuss Congenital adrenal hyperplasia. Click on the link to view a sample search on this topic.
    • 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.
    • The Screening, Technology And Research in Genetics (STAR-G) Project has a fact sheet on this condition, which was written specifically for families that have received a diagnosis as a result of newborn screening. This fact sheet provides general information about the condition and answers questions that are of particular concern to parents. To view this fact sheet, click on the link.
    • The MAGIC Foundation provides information on this condition. Click on the link to view the information.
  • Management Guidelines

    • 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

    • 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.
    • 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.
    • Baby's First Test is the nation's newborn screening education center for families and providers. This site provides information and resources about screening at the local, state, and national levels and serves as the Clearinghouse for newborn screening information.
    • The Newborn Screening Coding and Terminology Guide created by the National Library of Medicine (NLM) at the National Institutes of Health (NIH) promotes and facilitates the use of electronic health data standards in recording and transmitting newborn screening test results. The Web site includes standard codes and terminology for newborn tests and conditions for which they screen, and links to related sites. Click on the links to below view details for this condition.
      Congenital adrenal hyperplasia (due to 11-beta-hydroxylase deficiency)
      Congenital adrenal hyperplasia (non-classical)
      Congenital adrenal hyperplasia (salt-wasting)
      Congenital adrenal hyperplasia (simple virilizing)
    • National Newborn Screening and Global Resource Center (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.
 Organizations Providing General Support | Social Networking Websites
Organizations (Found 14 resources)
Groups providing a wide range of services, supportive resources, and information. Disclaimer
 Testing | Parent Resources
Services (Found 3 resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories. Disclaimer

    • Many individuals want to know about healthcare professionals or researchers who have knowledge of their conditions. When a condition is rare, it can be difficult to find someone who has seen many cases. Although there is no list of experts in rare diseases, GARD's How to Find an Expert fact sheet provides several ways to identify healthcare professionals who have experience with a particular condition. Click on the link to access this resource and learn more.

  • Testing

    • 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.
  • Parent Resources

    • The Parent Technical Assistance Center Network provides a list of the Parent Training and Information Centers in each state. These centers are funded by the United States Department of Education to provide early intervention and special education information and training to parents of children with disabilities from birth to age 26. Click on the link to find the Parent Center in your state.
 
Scientific Conferences (Found 5 resources)
Resources where you can find information on completed and upcoming scientific conferences and programs. Disclaimer

  • Past Conferences

    • RDCRN 3rd Conference on Clinical Research for Rare Diseases, October 2, 2012
      Location: Hilton Washington DC/Rockville Hotel & Executive Meeting Center, Rockville, MD
      Description: Clinical research in rare diseases presents a number of challenges and unique issues that are not usually considered in the training of clinical investigators through existing training programs. Goals of the conference include: direct instruction of trainees and new investigators in rare disease research methodology; development of a reusable curriculum/syllabus on rare disease research methodology; and stimulation of ideas regarding the unique issues facing investigators engaged in the study of rare diseases.
    • Newborn Screening in the Genomic Era: Setting a Research Agenda, December 13, 2010 - December 14, 2010
      Description: This meeting allowed leaders in the fields of genomics and newborn screening to learn from each other and together explore new ways to advance research on new genomic technologies, potential health applications for newborn screening and beyond, and related ELSI issues.
    • International Adrenal Cortex Conference “Adrenal 2010”, June 16, 2010 - June 18, 2010
      Description: This conference provided a forum for both new and established investigators to present their most recent work, highlighting new findings relevant to adrenal physiology, biochemistry and molecular biology, genetics, and medicine. It was anticipated that these discoveries would provide a framework for further understanding of the function of the adrenal gland and its contributions to health and disease.
    • VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010): Global Approach to Accessibility in Rare Diseases, Orphan Drugs and Neglected Diseases , March 18, 2010 - March 20, 2010
      Location: Palais Rouge Convention Center, Palermo, Buenos Aires
      Description: For the first time, the VI International Conference on Rare Diseases and Orphan Drugs (ICORD 2010) was convened in the southern hemisphere in agreement with its aim of globalization of rare diseases research and orphan products development activities.
    • Society for Inherited Metabolic Disorders Annual Meeting, August 29, 2009 - September 2, 2009
      Location: Manchester Grand Hyatt, San Diego, CA
      Description: The rarity, uniqueness, variability, and the need for an individual approach to treatment make inborn errors of metabolism a very complicated subspecialty. As such, most geneticists do not know these disorders well and only very specialized metabolic centers deal with them. For the United States to remain preeminent in both clinical and research aspects of inborn errors of metabolism, it is critical that young physicians and scientists be attracted to and remain in this important field.
 
Clinical Trials & Research (Found 3 resources)
Resources where you may find research studies and clinical trials. Disclaimer

    • ClinicalTrials.gov lists trials that are studying or have studied Congenital adrenal hyperplasia. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
    • NIH Clinical Trials and You is a website developed by the National Institutes of Health (NIH) to help people learn more about clinical trials, why they matter, and how to participate.
  • Patient Registry

    • ResearchMatch is a free national research registry designed to bring together patients, healthy volunteers and researchers. Anyone from the United States can register with ResearchMatch, and a parent, legal guardian, or caretaker may register on behalf of a volunteer. Researchers from participating institutions use the ResearchMatch database to search for patients or healthy volunteers who meet the study criteria. Many studies are looking for healthy people of all ages, while some are looking for people with specific illnesses. ResearchMatch was developed by major academic institutions across the country and is funded by the National Center for Advancing Translational Sciences.

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