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Congenital Adrenal Hyperplasia

Reviewed 06/2018
 


BASICS

DESCRIPTION

  • Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders caused by a defect in one of the five enzymatic steps in the production of cortisol.

    • The most common e...

DIAGNOSIS

HISTORY

  • CAH has a spectrum of clinical presentations depending on the degree of enzyme deficiency.

  • The classic forms present in childhood:

    • Female infants present with ambiguous genitalia due to...

TREATMENT

MEDICATION

First Line

  • In classic CAH, glucocorticoids are given to replace cortisol and to partially suppress androgen production. Mineralocorticoids are given to return electrolyte and renin ...

ONGOING CARE

FOLLOW-UP RECOMMENDATIONS

A multidisciplinary approach will best serve the patient with CAH, often including a pediatrician or primary care physician, endocrinologist, pediatric urologist ...

REFERENCES

1
Al-Agha AE, Ocheltree AH, Al-Tamimi MD. Association between genotype, clinical presentation, and severity of congenital adrenal hyperplasia: a review. Turk J Pediatr.  2012;54(4):323–...

CODES

ICD10

E25.0 Congenital adrenogenital disorders assoc w enzyme deficiency 

ICD9

255.2 Adrenogenital disorders 

SNOMED

  • 237751000 Congenital adrenal hyperplasia (disorder)

  • 52604008 steroid 21-monooxygena...

CLINICAL PEARLS

  • CAH is an autosomal recessive disorder most often caused by deficiency of 21-hydroxylase.

  • CAH encompasses a spectrum of disorders, which can be classified as salt wasting, simple virili...

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