Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
21-hydroxylase deficiency laboratory findings
Introduction
Overview
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
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 |
|
|
| Classic non salt-wasting |
|
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| Non-classic type |
|
|
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
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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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Mehrian Jafarizade, M.D [2]