21-hydroxylase deficiency laboratory findings: Difference between revisions
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* [[Metabolic acidosis]] | * [[Metabolic acidosis]] | ||
* [[Hypoglycemia]] | * [[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== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 14:48, 21 September 2017
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21-hydroxylase deficiency Microchapters |
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Differentiating 21-Hydroxylase Deficiency from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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21-hydroxylase deficiency laboratory findings On the Web |
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American Roentgen Ray Society Images of 21-hydroxylase deficiency laboratory findings |
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Risk calculators and risk factors for 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 |
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| Classic non salt-wasting |
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| Non-classic type |
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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.