How are congenital adrenal hyperplasia variants differentiated in the workup of metabolic alkalosis?

Updated: Dec 10, 2020
  • Author: Christie P Thomas, MBBS, FRCP, FASN, FAHA; Chief Editor: Vecihi Batuman, MD, FASN  more...
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Answer

In 11-hydroxylase deficiency, plasma and urine levels of DOC and 11-deoxycortisol are high. In 17-hydroxylase deficiency, DOC is elevated while 11-deoxycortisol is low. Another important difference between the 2 conditions is the impaired adrenal androgen synthesis in the latter and enhanced synthesis in the former. Therefore, measuring plasma or urine adrenal androgens (eg, dehydroepiandrosterone [DHEA], testosterone) may help to differentiate between the 2 conditions.


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