21-hydroxylase deficiency laboratory findings: Difference between revisions
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|Classic salt wasting | |Classic salt wasting | ||
|* Greater than 3500 ng/dL | | | ||
|* Not necessary | * Greater than 3500 ng/dL | ||
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* Not necessary | |||
|- | |- | ||
|Classic non-salt wasting | |Classic non-salt wasting | ||
|* Greater than 3500 ng/dL | | | ||
|* Not necessary | * Greater than 3500 ng/dL | ||
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* Not necessary | |||
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|Non-classic type | |Non-classic type | ||
|* Children greater than 82 ng/dL | | | ||
* Children greater than 82 ng/dL | |||
* Adult female greater than 200 ng/dL, morning serum sample during the follicular phase of the menstrual cycle | * Adult female greater than 200 ng/dL, morning serum sample during the follicular phase of the menstrual cycle | ||
|* Needs for confirmation | | | ||
* Needs for confirmation | |||
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* [[Hyperkalemia]] in these infants can be very high | * [[Hyperkalemia]] in these infants can be very high | ||
* Metabolic acidosis | * Metabolic acidosis | ||
* [[Hypoglycemia]] | * [[Hypoglycemia]] | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 16:18, 14 July 2017
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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters |
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Differentiating Congenital adrenal hyperplasia due to 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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Directions to Hospitals Treating Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |
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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 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.[1][2]
| 21-hydroxylase deficiency type | 17-hydroxyprogesterone level | Cosintropin stimulation testing in high-dose test (250 mcg) |
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| 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 Na+ typically between 105 and 125 mEq/L
- Hyperkalemia in these infants can be very high
- Metabolic acidosis
- Hypoglycemia
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.