21-hydroxylase deficiency laboratory findings

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 differ in each disease sub-type. 17-hydroxyprogesterone level and cosyntropin stimulation test can be used for diagnosis.

Laboratory Findings

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

21-hydroxylase deficiency type	17-hydroxyprogesterone level	High dose Cosintropin stimulation 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	Children: greater than 82 ng/dL Adult females: greater than 200 ng/dL, morning serum sample during the follicular phase of the menstrual cycle	Necessary for confirmation

Salt-wasting crises in infancy in classic type

Low serum cortisol level
Hyponatremia, with a serum sodium typically between 105 mEq/L and 125 mEq/L
Hyperkalemia in these infants can be very high
Metabolic acidosis
Hypoglycemia

Genetic testing

Genetic testing can detect approximately 95 percent of mutations. Genetic testing should only be done if the laboratory tests are non diagnostic or for purposes of genetic counseling.

References

↑ Speiser PW, White PC (2003). “Congenital adrenal hyperplasia”. N. Engl. J. Med. 349 (8): 776–88. doi:10.1056/NEJMra021561. PMID 12930931.
↑ 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.

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[pmid12930931-1] Speiser PW, White PC (2003). “Congenital adrenal hyperplasia”. N. Engl. J. Med. 349 (8): 776–88. doi:10.1056/NEJMra021561. PMID 12930931.

[pmid10857554-2] 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.

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