What determines the clinical phenotype 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

The clinical phenotype of congenital adrenal hyperplasia depends on the nature and severity of the enzyme deficiency. The most common form is 21-hydroxylase deficiency (CYP21). Approximately 50% of patients with classic congenital adrenal hyperplasia due to CYP21A mutations or deletions have salt wasting due to inadequate aldosterone synthesis. Although the information below is presented according to chromosomal sex, the sex of a neonate with congenital adrenal hyperplasia is often initially unclear because of genital ambiguity.


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