21-hydroxylase deficiency laboratory findings

Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters
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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 congenital adrenal hyperplasia due to 21-hydroxylase deficiency include hyponatremia, hyperkalemia, and low [[cortisol

Laboratory Findings

Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency include:

21-hydroxylase deficiency type	17-hydroxyprogesterone level	ACTH 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	Children greater than 82 ng/dL Adult female greater than 200 ng/dL, morning serum sample during the follicular phase of the menstrual cycle	Needs for confirmation

Salt-wasting crises in infancy

• Basic chemistries will reveal hyponatremia, with a serum Na⁺ typically between 105 and 125 mEq/L. Hyperkalemia in these infants can be extreme—levels of K⁺ above 10 mEq/L are not unusual—as can the degree of metabolic acidosis. Hypoglycemia may be present. This is termed a salt-wasting crisis and rapidly causes death if not treated.

Childhood onset (simple virilizing) congenital adrenal hyperplasia

• Diagnosis of simple virilizing congenital adrenal hyperplasia type is usually confirmed by discovering extreme elevations of 17-hydroxyprogesterone along with moderately high testosterone levels. Cosyntropin stimulation test may be needed in mild cases, but usually the random levels of 17OHP are high enough to confirm the diagnosis.

Late onset (nonclassical) congenital adrenal hyperplasia

• Diagnosis of late-onset congenital adrenal hyperplasia may be suspected from a high 17-hydroxyprogesterone level, but some cases are so mild that the elevation is only demonstrable after cosyntropin stimulation.