21-hydroxylase deficiency laboratory findings: Difference between revisions
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{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}} | {{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}} | ||
==Overview== | ==Overview== | ||
Laboratory findings consistent with the diagnosis of 21-hydroxylase deficiency differs in each disease type. [[17-hydroxyprogesterone]] level and [[ | Laboratory findings consistent with the diagnosis of 21-hydroxylase deficiency differs in each disease type. [[17-hydroxyprogesterone]] level and [[cosyntropin]] stimulation test can be used to diagnosis. | ||
==Laboratory Findings== | ==Laboratory Findings== | ||
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{| class="wikitable" | {| class="wikitable" | ||
!21-hydroxylase deficiency type | !21-hydroxylase deficiency type | ||
!17-hydroxyprogesterone level | ![[17-hydroxyprogesterone]] level | ||
!Cosintropin stimulation testing in high-dose test (250 mcg) | ![[Cosyntropin|Cosintropin]] stimulation testing in high-dose test (250 mcg) | ||
|- | |- | ||
|Classic salt wasting | |Classic salt-wasting | ||
| | | | ||
* Greater than 3500 ng/dL | * Greater than 3500 ng/dL | ||
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* Not necessary | * Not necessary | ||
|- | |- | ||
|Classic non- | |Classic non salt-wasting | ||
| | | | ||
* Greater than 3500 ng/dL | * Greater than 3500 ng/dL | ||
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| | | | ||
* 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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===Salt-wasting crises in infancy in classic type=== | ===Salt-wasting crises in infancy in classic type=== | ||
* Low serum cortisol level | * Low serum [[cortisol]] level | ||
* [[hyponatremia]], with a serum | * [[hyponatremia]], with a serum [[sodium]] typically between 105 and 125 mEq/L | ||
* [[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 17:15, 1 August 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 differs in each disease type. 17-hydroxyprogesterone level and cosyntropin 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) |
|---|---|---|
| Classic salt-wasting |
|
|
| Classic non salt-wasting |
|
|
| Non-classic type |
|
|
Salt-wasting crises in infancy in classic type
- Low serum cortisol level
- hyponatremia, with a serum sodium 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.