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 [[cosyntropin]] stimulation test can be used | Laboratory findings consistent with the diagnosis of 21-hydroxylase deficiency differs 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 differs in each disease type.<ref name="pmid12930931">{{cite journal |vauthors=Speiser PW, White PC |title=Congenital adrenal hyperplasia |journal=N. Engl. J. Med. |volume=349 |issue=8 |pages=776–88 |year=2003 |pmid=12930931 |doi=10.1056/NEJMra021561 |url=}}</ref><ref name="pmid10857554">{{cite journal |vauthors=White PC, Speiser PW |title=Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=Endocr. Rev. |volume=21 |issue=3 |pages=245–91 |year=2000 |pmid=10857554 |doi=10.1210/edrv.21.3.0398 |url=}}</ref> | Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency differs in each disease sub-type.<ref name="pmid12930931">{{cite journal |vauthors=Speiser PW, White PC |title=Congenital adrenal hyperplasia |journal=N. Engl. J. Med. |volume=349 |issue=8 |pages=776–88 |year=2003 |pmid=12930931 |doi=10.1056/NEJMra021561 |url=}}</ref><ref name="pmid10857554">{{cite journal |vauthors=White PC, Speiser PW |title=Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=Endocr. Rev. |volume=21 |issue=3 |pages=245–91 |year=2000 |pmid=10857554 |doi=10.1210/edrv.21.3.0398 |url=}}</ref> | ||
{| class="wikitable" | {| class="wikitable" | ||
! align="center" style="background:#4479BA; color: #FFFFFF;" + |21-hydroxylase deficiency type | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |21-hydroxylase deficiency type | ||
! align="center" style="background:#4479BA; color: #FFFFFF;" + |[[17-hydroxyprogesterone]] level | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |[[17-hydroxyprogesterone]] level | ||
! align="center" style="background:#4479BA; color: #FFFFFF;" + |[[Cosyntropin|Cosintropin]] stimulation | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |High dose [[Cosyntropin|Cosintropin]] stimulation test (250 mcg) | ||
|- | |- | ||
|Classic salt-wasting | |'''Classic salt-wasting''' | ||
| | | | ||
* Greater than 3500 ng/dL | * Greater than 3500 ng/dL | ||
| Line 20: | Line 20: | ||
* Not necessary | * Not necessary | ||
|- | |- | ||
|Classic non salt-wasting | |'''Classic non salt-wasting''' | ||
| | | | ||
* Greater than 3500 ng/dL | * Greater than 3500 ng/dL | ||
| Line 26: | Line 26: | ||
* Not necessary | * Not necessary | ||
|- | |- | ||
|Non-classic type | |'''Non-classic type''' | ||
| | | | ||
* Children greater than 82 ng/dL | * Children: greater than 82 ng/dL | ||
* Adult | * Adult females: greater than 200 ng/dL, morning serum sample during the [[follicular phase]] of the [[menstrual cycle]] | ||
| | | | ||
* | * Necessary for confirmation | ||
|} | |} | ||
===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 [[sodium]] typically between 105 mEq/L 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]] | ||
Revision as of 13:03, 5 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 differs 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 differs 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 |
|
|
| 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
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.