What causes variance in the physical findings of congenital adrenal hyperplasia (CAH)?

Updated: Oct 06, 2020
  • Author: Thomas A Wilson, MD; Chief Editor: Sasigarn A Bowden, MD  more...
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Answer

Physical findings depend on the nature and severity of the deficient enzyme activity. See the image below.

Steroidogenic pathway for cortisol, aldosterone, a Steroidogenic pathway for cortisol, aldosterone, and sex steroid synthesis. A mutation or deletion of any of the genes that code for enzymes involved in cortisol or aldosterone synthesis results in congenital adrenal hyperplasia. The particular phenotype that results depends on the sex of the individual, the location of the block in synthesis, and the severity of the genetic deletion or mutation.

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