How is the clinical phenotype identified in 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

The clinical phenotype can be understood by analyzing the location of the enzyme deficiency, the accumulation of precursor hormones, the products of those precursors when one enzyme pathway is ineffective, and the physiologic action of those hormones (see History).


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