How is congenital adrenal hyperplasia (CAH) diagnosed?

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

The diagnosis of congenital adrenal hyperplasia depends on the demonstration of inadequate production of cortisol, aldosterone, or both in the presence of accumulation of excess concentrations of precursor hormones. [2] For example, the distinguishing characteristic of 21-hydroxylase deficiency is a high serum concentration of 17-hydroxyprogesterone (usually >1000 ng/dL) and urinary pregnanetriol (metabolite of 17-hydroxyprogesterone) in the presence of clinical features suggestive of the disease (eg, salt wasting, clitoromegaly or ambiguous genitalia, precocious pubic hair, excessive growth, premature phallic enlargement in the absence of testicular enlargement, hirsutism, oligomenorrhea, female infertility).


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