How is the phenotype of congenital adrenal hyperplasia (CAH) determined?

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

The phenotype depends on the degree or type of gene deletion or mutation and the resultant deficiency of the steroidogenic enzyme. The enzymes and corresponding genes are displayed in the image below.

Enzymes and genes involved in adrenal steroidogene Enzymes and genes involved in adrenal steroidogenesis.

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