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Congenital Adrenal Hyperplasia

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by Stresing D

(CAH)

 

Diagnosis

Testing may be done during pregnancy, just after birth, or after symptoms develop.
Testing may be done during pregnancy if there is a family history of CAH, especially if a sibling has the disease. Small samples of tissue or amniotic fluid may be removed for testing. The samples are taken by one of the following:
In the United States, all newborn children are screened for CAH. The test involves a heelstick to draw some blood. The blood will be examined for hormone levels.
To diagnose CAH in older children or in those that were not screened as newborns, your doctor will ask about your child’s symptoms and medical history. A physical exam will be done. Your doctor may take a small amount of blood and urine to test for hormone levels. This is often enough to make the diagnosis.
If the tests are not clear, your doctor may order genetic testing. This is done with blood tests.
 

Treatment

You and your child may be referred to a specialist. Talk with your doctor about the best treatment plan. With treatment, your child can have a normal life. Treatment options include:

Prenatal Treatment

If CAH is found before birth, dexamethasone may be used. This medication can lower the level of androgens. It may allow normal development of female genitalia. It does not stop CAH from developing.
The medication may be taken as a pill or liquid by the mother.

Medications

Most children born with CAH need to take hormone replacement medicines. These steroid medications will replace the missing hormones. The exact types of steroid will depend on your child's condition. The medication will also help slow the production of androgens. This will reduce the development of male features in girls.
Cortisol is needed during stressful situations and illness. If you are taking medication to replace cortisol, you may need extra doses during stressful events. This can include surgeries or illnesses. Your doctor will make a medication plan with you.
Depending on the type of CAH, medication may need to be taken for the rest of your child's life.

Dietary Changes

Missing aldosterone can cause a condition called salt wasting. This is a problem maintaining the correct amount of salt in the blood. It can lead to low blood pressure and a high potassium level in the blood. If you have salt wasting, you may need to add table salt to your diet.

Surgery

Surgery can correct unusually formed genitalia. It is often done when the child is between 1-3 years of age.
 

RESOURCES

Congenital Adrenal Hyperplasia Education and Support Network
http://www.congenitaladrenalhyperplasia.org

Congenital Adrenal Research Education and Support
http://www.caresfoundation.org

 

CANADIAN RESOURCES

SickKids
http://www.sickkids.ca

Save Babies Through Screening Foundation of Canada
http://www.savebabies.org

 

References


Bachelot a, Chakhtoura Z, et al: Hormonal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Ann Endocrinol 2007;68:274-280.


Carlson AD, Obeid JS, et al. Congenital adrenal hyperplasia: update on prenatal diagnosis and treatment. J Steroid Biochem Mol Biol. 1999;69:19-29.


Congenital Adrenal Hyperplasia. EBSCO DynaMed website. Available at: http://dynamed.ebscohost.com/about/about-us. Updated June 26, 2012. Accessed August 8, 2013.


Homma K, Hasegawa T, et al. Elevated urine pregnanetriolone definitively establishes the diagnosis of classical 21-hydroxylase deficiency in term and preterm neonates. J Clin Endocrinol Metab. 2004;89(12):6087-6091.


Lajic A, Norderstrom A, et al. Prenatal treatment of congenital adrenal hyperplasia. Europ J Endo. 2004;151:63-69.


Meyer-Bahlburg HFL, Dolezel D, et al. Cognitive and motor development of children with and without congenital adrenal hyperplasia after early prenatal dexamethasone. J Clin Endo Meta. 2004;89:610-614.


New MI, Carlson A, et al. Extensive personal experience: prenatal diagnosis for congenital adrenal hyperplasia in 532 pregnancies. J Clin Endocrinol Metab. 2001;86(12):5651-5657.


Oglive CM, Crouch NS, et al: Congenital adrenal hyperplasia in adults: a review of medical, surgical and psychological issues. Clin Endocrinol. 2006;64:2-11.


Patient Education—Facts about CAH. Clinical Center National Institutes of Health website. Available at: http://www.cc.nih.gov/ccc/patient%5Feducation/pepubs/cah.pdf. Accessed August 8, 2013.


4/15/2011 DynaMed's Systematic Literature Surveillance http://dynamed.ebscohost.com/about/about-us: Muthusamy K, Elamin MB, Smushkin G, et al. Clinical review: Adult height in patients with congenital adrenal hyperplasia: a systematic review and metaanalysis. J Clin Endocrinol Metab. 2010;95(9):4161-4172.

 

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