21-hydroxylase deficiency laboratory findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Mehrian Jafarizade, M.D [2]

Overview

Laboratory findings consistent with the diagnosis of 21-hydroxylase deficiency differs in each disease type. 17-hydroxyprogesterone level and cosyntropin stimulation test can be used to diagnosis.

Laboratory Findings

Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency differs in each disease type.[1][2]

21-hydroxylase deficiency type 17-hydroxyprogesterone level Cosintropin stimulation testing in high-dose test (250 mcg)
Classic salt-wasting
  • Greater than 3500 ng/dL
  • Not necessary
Classic non salt-wasting
  • Greater than 3500 ng/dL
  • Not necessary
Non-classic type
  • Needs for confirmation

Salt-wasting crises in infancy in classic type

References

  1. Speiser PW, White PC (2003). "Congenital adrenal hyperplasia". N. Engl. J. Med. 349 (8): 776–88. doi:10.1056/NEJMra021561. PMID 12930931.
  2. White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. doi:10.1210/edrv.21.3.0398. PMID 10857554.