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 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.

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