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 differs in each disease type. 17-hydroxyprogesterone level and cosintropin 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.

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	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 in classic type

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