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Congenital Adrenal Hyperplasia, Pediatric

Erica A. Eugster, MD Reviewed 10/2018
 


BASICS

DESCRIPTION

Congenital adrenal hyperplasia (CAH) refers to a group of autosomal recessive disorders that have in common deficiency of an enzyme needed for cortisol biosynthesis. The disease exis...

DIAGNOSIS

HISTORY

  • Any family history of CAH should be sought as well as any history of exposures and/or maternal virilization during pregnancy.

  • In infants, poor feeding, lethargy, and vomiting are impor...

TREATMENT

GENERAL MEASURES

ALERT

Stress-dose glucocorticoid coverage during illness or injury is essential in patients with CAH.

 

MEDICATION

  • Medical treatment of CAH consists of glucocorticoid therapy in ...

ONGOING CARE

  • Ongoing clinic visits and monitoring of growth, puberty, and hormonal studies (including serial measurements of 17OHP) are standard of care.

  • Psychological support and educational materials...

ADDITIONAL READING

  • Auchus RJ, Witchel SF, Leight KR, et al. Guidelines for the development of comprehensive care centers for congenital adrenal hyperplasia: guidance from the CARES Foundation initiati...

CODES

ICD9

255.2 Adrenogenital disorders 

ICD10

E25.0 Congenital adrenogenital disorders assoc w enzyme deficiency 

SNOMED

  • 237751000 Congenital adrenal hyperplasia (disorder)

  • 698855007 21-hydroxylase defici...

FAQ

  • Q: When does a salt-wasting crisis usually occur in newborns with CAH?

  • A: The most common time is between days 5 and 10 of life. However, it may occur as early as on day 1 of life or not until many...

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