Cookies help us deliver our services. By using our services, you agree to our use of cookies. Learn more

Congenital Adrenal Hyperplasia

What is Congenital Adrenal Hyperplasia?

Congenital Adrenal Hyperplasia is a genetic defect of the adrenal glands.


Congenital Adrenal Hyperplasia is a genetic defect of the adrenal glands.
Acknowledgement of Congenital Adrenal Hyperplasia has not been added yet.
Synonyms for Congenital Adrenal Hyperplasia has not been added yet.
Deletions and mutations in the CYP21A2 gene account for all cases of the 21-hydroxylase deficiency form of CAH. The CYP21A2 gene provides instructions for making an enzyme called 21-hydroxylase. 21-hydroxylase deficiency is caused by a shortage (deficiency) of the 21-hydroxylase enzyme. The amount of functional 21-hydroxylase enzyme determines the severity of the disorder. People with the classic type of this condition have CYP21A2 gene mutations that allow the production of low levels of the functional enzyme. Individuals with the non-classic type of this disorder have CYP21A2 mutations that result in the production of reduced amounts of the enzyme, but more enzyme than either of the other types ( In addition, 3-beta-hydroxysteroid dehydrogenase deficiency is caused by mutations in the HSD3B2 gene, 11-beta-hydroxylase deficiency is caused by mutations in the CYP11B1 gene, Cytochrome P450 oxidoreductase deficiency is caused by mutations in the POR gene, 17-hydroxylase deficiency is caused by mutations in the CYP17A1 gene and Congenital lipoid adrenal hyperplasia is caused by mutations in the STAR gene. All forms of congenital adrenal hyperplasia (CAH) are inherited in an autosomal recessive manner. This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell (
Patients with CAH usually have abnormally enlarged adrenal glands (hyperplastic adrenomegaly) that produce excessive amounts of androgens (male steroid hormones), which means females will begin male development ( Many females are also born with ambiguous external genitalia. Both genders can experience other symptoms such as early onset of puberty, fast body growth, and premature completion of growth leading to short stature, if they are not diagnosed and treated in early life ( Others symptoms include: Salt wasting, dehydration, hypovolemia, hypotension and shock, profound weakness, vomiting, diarrhea and circulatory collapse (
All newborns (in the US) are screened for the most common form of CAH, 21-hydroxylase deficiency. Nonclassic CAH is not detected through newborn screening and is often not suspected until signs and symptoms of the condition begin to appear later in childhood or early adulthood. Prenatal diagnosis is available for couples at risk for having a child affected with CAH (
Diagnostic tests of Congenital Adrenal Hyperplasia has not been added yet
There is currently no cure for CAH, but there are many effective ways to treat it ( The primary goal of treating classical CAH is to reduce the excess androgen production and replace the deficient hormones. Proper treatment with the correct dosage of these hormones is crucial to preventing adrenal crisis and virilization ( Female classical CAH patients also have the option of surgery to correct the appearance of ambiguous genitalia ( Non-classical CAH on the other hand, is not life-threatening and relatively mild. People who have no obvious symptoms of non-classical CAH do not require surgery or medical treatment. If a patient with non-classical CAH begins to enter puberty too early, has early maturation of bones, or is a female with excess facial or body hair or other masculine features, glucocorticoid treatment is recommended. If CAH is detected in a fetus, prenatal treatment is a possibility, although it should be regarded as experimental. The oral drug dexamethasone can be given to pregnant women in a subsequent pregnancy if she has given birth to child with severe classical CAH. Such treatment does not prevent or cure the disease, but may lessen the virilization of affected female fetuses (
The long-term outlook for people with CAH is usually good. With lifelong treatment, affected people typically have good health and normal lifespan. However, problems with psychological adjustment are common, particularly in people with genital abnormalities (
Tips or Suggestions of Congenital Adrenal Hyperplasia has not been added yet.
References of Congenital Adrenal Hyperplasia has not been added yet.
Hello out there! Created by Gabs143
Last updated 30 Jun 2022, 04:07 PM

Posted by ZikaGatsGW
30 Jun 2022, 04:07 PM

Hello guys, look at this crazy websites :) Всем привет! Рекомендую кликнуть по ссылочкам, чтобы заценить движуху :) [url=]eviction[/url][url=]scientifically[/url][url=]developing[/url][url=]pii[/url][url=]bubbly[/url][url=]potentially[/url][url=]twa[/url][url=]ambien[/url][url=]leviathan[/url][url=]syndicate[/url][url=]lompoc[/url][url=]microsano[/url][url=]premature[/url][url=]tendered[/url][url=]nuovo[/url][url=]rokr[/url][url=]earthquakes[/url][url=]chopper[/url][url=]brokering[/url][url=]feminists[/url][url=]masquerading[/url][url=]haz[/url][url=]myelin[/url][url=]uconn[/url][url=]suresh[/url][url=]complaint[/url][url=]reno[/url][url=]kein[/url][url=]kilobytes[/url][url=]readily[/url][url=]suitability[/url][url=]hide[/url][url=]fixing[/url][url=]worx[/url][url=]rockville[/url][url=]abb[/url][url=]invoices[/url][url=]investigators[/url][url=]algorithm[/url][url=]positive[/url][url=]krause[/url][url=]frankie[/url][url=]housed[/url][url=]professional[/url][url=]devastating[/url][url=]longhorns[/url][url=]demanded[/url][url=]cp[/url][url=]nederlandse[/url][url=]itis[/url]

Posted by ZikaGatsGW
23 Jun 2022, 06:44 AM

Hello guys, look at this crazy websites :) Всем привет! Рекомендую кликнуть по ссылочкам, чтобы заценить движуху :) [url=]rhett[/url][url=]par[/url][url=]compute[/url][url=]gv[/url][url=]eich[/url][url=]gnp[/url][url=]disclaim[/url][url=]queued[/url][url=]xmas[/url][url=]offensive[/url][url=]vacate[/url][url=]mars[/url][url=]quizilla[/url][url=]pros[/url][url=]cra[/url][url=]wbc[/url][url=]malformed[/url][url=]needlessly[/url][url=]binge[/url][url=]inmarsat[/url][url=]miners[/url][url=]lunch[/url][url=]delray[/url][url=]fined[/url][url=]curso[/url][url=]northumbria[/url][url=]cleavage[/url][url=]farr[/url][url=]carver[/url][url=]sofa[/url][url=]meiji[/url][url=]rouge[/url][url=]giancarlo[/url][url=]dispatcher[/url][url=]fractal[/url][url=]patterning[/url][url=]moveto[/url][url=]neuron[/url][url=]loyal[/url][url=]isolation[/url][url=]changing[/url][url=]nobility[/url][url=]glows[/url][url=]aslan[/url][url=]dodge[/url][url=]picks[/url][url=]ncaa[/url][url=]junit[/url][url=]demon[/url][url=]mccain[/url]

Posted by louisev
6 May 2013, 05:29 AM

hi Adeerni, What country are you in? "Hisone" or "Hysone" is a brand name used in India for hydrocortisone sulfate, or simply "hydrocortisone and it should be available everywhere.

View Full Thread (15 more posts)
Living with CAH Created by Gina08
Last updated 15 Dec 2021, 06:30 PM

Posted by Gina08
15 Dec 2021, 06:30 PM


Our 6 day old son has been diagnosed with CAH. I was just wondering if there is anyone out there that can tell

me what life is like with this condition and does it affect you in anyway that stops you from doing anything. Any information from a personal perspective would be much appreciated.



CAH in the South Asian Population Created by jayhemant
Last updated 20 Jan 2021, 01:39 AM

Posted by jayhemant
20 Jan 2021, 01:39 AM


Hi, my name is Jay Desai and I am currently a research assistant at the National Institutes of Health Clinical Center. My lab focuses primarily on studying Congenital Adrenal Hyperplasia (CAH), an autosomal recessive disorder affecting the adrenal steroidogenesis pathway. As a research assistant, I have had the opportunity to meet with patients during clinic visits (currently telehealth) and observe the clinical features associated with the disease. One of these clinical features being the hormone effects associated with excess androgen production.

These hormone effects include acne, weight gain, and hirsutism. While these effects may be prevalent in all those who have the disorder, I am interested in learning how these effects may uniquely impact South Asian women. As a South Asian male, I am aware of the many stringent beauty standards that women in my society face. Furthermore, I recognize the negative consequences that misinformation may construe - especially about sensitive subject material such as excess androgen symptoms in women. As a result, my best friend, Jahnavi Kola, and I are aiming to create a website to share stories from South Asian women affected by CAH and other excess androgen disorders. Ultimately, we hope to shed light on these issues in efforts to not only empower South Asian women affected by this disease but anyone facing pressure to conform to mainstream norms. Are there any of you who would be willing to set up a call to talk about your experiences? If you do not have a South Asian background, we would still love to hear about your experience. Everything you say will be confidential if you so prefer and will not be published without your consent. If interested, please reach out to me at or Jahnavi Kola at Thank you.


Community Resources
Title Description Date Link
Australian CAH support group

Australian CAH support group website

Congenital Adrenal Hyperplasia

Education and support network with forums

Living with CAH

Living with CAH support group


Clinical Trials

Cords registry

CoRDS, or the Coordination of Rare Diseases at Sanford, is based at Sanford Research in Sioux Falls, South Dakota. It provides researchers with a centralized, international patient registry for all rare diseases. This program allows patients and researchers to connect as easily as possible to help advance treatments and cures for rare diseases. The CoRDS team works with patient advocacy groups, individuals and researchers to help in the advancement of research in over 7,000 rare diseases. The registry is free for patients to enroll and researchers to access.

Enrolling is easy.

  1. Complete the screening form.
  2. Review the informed consent.
  3. Answer the permission and data sharing questions.

After these steps, the enrollment process is complete. All other questions are voluntary. However, these questions are important to patients and their families to create awareness as well as to researchers to study rare diseases. This is why we ask our participants to update their information annually or anytime changes to their information occur.

Researchers can contact CoRDS to determine if the registry contains participants with the rare disease they are researching. If the researcher determines there is a sufficient number of participants or data on the rare disease of interest within the registry, the researcher can apply for access. Upon approval from the CoRDS Scientific Advisory Board, CoRDS staff will reach out to participants on behalf of the researcher. It is then up to the participant to determine if they would like to join the study.

Visit to enroll.

Community Leaders


Expert Questions

Ask a question

Community User List

i've been diagnosed with late onset cah. i'm meeting with my endocrinologist in 2 weeks to discuss and start treatment.
I have an 'uncommon' form of congenital adrenal hyperplasia called 11-beta hydroxylase deficiency. I have only found two other people throughout the internet support community with 11-beta. Since I...
Since birth, I have been carrying the blessing or scourge , of CAH.



This means that every cell in my body carries two mutations for this defect. Sometimes this feels quite surreal....
I have Late Onset Congenital Adrenal Hyperplasia


My main complaint is fatigue
I am an adult female affected by Non-classical Congenital Adrenal Hyperplasia due to 21-hydroxylase deficiency. I reside in New York, NY, and currently work as a freelance writer and paralegal.


Mother of a SWCAH child who also has obesity, Hypothyroidism and Intracranial Hypertension.

Start a Community

Don't See Your Condition On Rareshare?

Start your own! With a worldwide network of 8,000 users, you won't be the only member of your community for long.


Have questions about rareshare?

Visit our Frequently Asked Questions page to find the answers to some of the most commonly asked questions.

Discussion Forum

Hello out there!

Created by Gabs143 | Last updated 30 Jun 2022, 04:07 PM

Living with CAH

Created by Gina08 | Last updated 15 Dec 2021, 06:30 PM

CAH in the South Asian Population

Created by jayhemant | Last updated 20 Jan 2021, 01:39 AM


Our Communities

Join Rareshare to meet other people that have been touched by rare diseases. Learn, engage, and grow with our communities.


Our Resources

Our rare disease resources include e-books and podcasts





Our Community Leaders

Community leaders are active users that have been touched by the rare disease that they are a part of. Not only are they there to help facilitate conversations and provide new information that is relevant for the group, but they are there for you and to let you know you have a support system on Rareshare.