Congenital Adrenal Hyperplasia
- Classic CAH—more severe form
- Nonclassic CAH—mild form
- 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 in newborn girls
- 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:
- Become very muscular
- Experience penis growth
- Develop pubic hair
- Have a deepening voice
- Excessive facial and/or body hair
- Fast growth compared to other children their age (most will stop growing sooner than their peers and are often relatively short as adults)
- Difficulty fighting respiratory infections and illnesses
- High blood pressure
- Poor feeding and vomiting
- Failure to gain weight
- Short stature
- Severe acne
Congenital Adrenal Hyperplasia Education and Support Network http://www.congenitaladrenalhyperplasia.org/
Congenital Adrenal Research Education and Support http://www.caresfoundation.org/
The Magic Foundation http://www.magicfoundation.org/
CAH Sick Kids—Child Physiology http://www.sickkids.ca/childphysiology
Save Babies Through Screening Foundation of Canada http://www.savebabiescanada.org/
Bachelot a, Chakhtoura Z, Rouxel a et al: Hormonal treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. A nn Endocrinol 2007;68:274-80.
Carlson AD, Obeid JS, Kanellopoulou N, 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/what.php . Updated June 26, 2012. Accessed December 10, 2012.
Homma K, Hasegawa T, Takeshita E, 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, Ritz EM, 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, Obeid J, 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, Rumsby G 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 December 10, 2012.
4/15/2011 DynaMed's Systematic Literature Surveillance DynaMed's Systematic Literature Surveillance : 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: Michael Woods, MD
- Review Date: 11/2012 -
- Update Date: 11/26/2012 -