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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.
10.0http://www.orpha.net
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 (https://rarediseases.org/). 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 (https://rarediseases.info.nih.gov/gard/).
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 (https://rarediseases.info.nih.gov/gard/). 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 (https://rarediseases.info.nih.gov/gard/). Others symptoms include: Salt wasting, dehydration, hypovolemia, hypotension and shock, profound weakness, vomiting, diarrhea and circulatory collapse (https://rarediseases.info.nih.gov/gard/).
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 (https://rarediseases.org/).
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 (https://rarediseases.org/). 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 (https://rarediseases.info.nih.gov/gard/). Female classical CAH patients also have the option of surgery to correct the appearance of ambiguous genitalia (https://rarediseases.org/). 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 (https://rarediseases.info.nih.gov/gard/).
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 (https://rarediseases.info.nih.gov/gard/).
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Hello out there! Created by Gabs143
Last updated 6 May 2013, 05:29 AM

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.

Posted by adeerni
6 May 2013, 02:00 AM

Hi there, iam the mother of CAH child. Right now i have accepted about my child disorder. My son get simple virilisation type. But now i am confused about the drug (hysone), because that drug not available in my country, really difficult to get that drug. Please help me and our group (the name is kahaki) to get that drug.

Posted by Syzygy
22 Feb 2011, 06:31 AM

Thanks HopeSuzanne for your upbeat contribution! Even though I have classical CAH, these days I feel that it is the least of my worries as I have so much other health stuff going on. Whether CAH has contributed to these other diagnoses I don't know, but I think I am stuck with them for the long haul! Oh well! I do try and keep positive though with a smile on my face, which can fool most of the people most of the time!! Have a great day everyone! Syz

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Living with CAH

Living with CAH support group

03/20/2017
Australian CAH support group

Australian CAH support group website

03/20/2017
Congenital Adrenal Hyperplasia

Education and support network with forums

03/20/2017

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Hello out there!

Created by Gabs143 | Last updated 6 May 2013, 05:29 AM


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