Congenital Adrenal Hyperplasia
- Cortisol—helps the body respond to stress and infections
- Aldosterone—helps the body maintain normal levels of sodium and potassium
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Altered or unexpected features in newborn girls such as:
- Unusual appearance of genitalia
- Parts of the external genitalia may resemble a penis
Early signs of puberty in boys as young as two or three years old such as:
- Becoming very muscular
- Experiencing penis growth
- Developing pubic hair
- Having a deepening voice
- Excessive facial and/or body hair
- Fast growth compared to peers of the same age—most children will stop growing sooner than their peers and are often relatively short as adults
- Difficulty fighting respiratory infections and illnesses
- Loss of appetite
- Weight loss
- Severe acne
- Nausea and vomiting
- Abdominal pain
- Bluish skin color
Congenital Adrenal Hyperplasia Education and Support Network http://www.congenitaladrenalhyperplasia.org
Congenital Adrenal Research Education and Support Foundation http://www.caresfoundation.org
SickKids—The Hospital for Sick Children http://www.sickkids.ca
Save Babies Through Screening Foundation of Canada http://www.savebabies.org
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://www.ebscohost.com/dynamed. Updated June 26, 2012. Accessed June 4, 2014.
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. Published November 2009. Accessed June 4, 2014.
4/15/2011 DynaMed's Systematic Literature Surveillance http://www.ebscohost.com/dynamed: 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.
- Reviewer: Kim Carmichael, MD
- Review Date: 05/2014 -
- Update Date: 06/04/2014 -
This content is reviewed regularly and is updated when new and relevant evidence is made available. This information is neither intended nor implied to be a substitute for professional medical advice. Always seek the advice of your physician or other qualified health provider prior to starting any new treatment or with questions regarding a medical condition.
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