21-hydroxylase deficiency laboratory findings: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{ | {{21-hydroxylase deficiency}} | ||
{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}} | {{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}} | ||
==Overview== | ==Overview== | ||
Laboratory findings consistent with the diagnosis of | 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 | Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency differ 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" | ||
!21-hydroxylase deficiency type | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |21-hydroxylase deficiency type | ||
!17-hydroxyprogesterone level | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |17-hydroxyprogesterone level | ||
!Cosintropin stimulation | ! align="center" style="background:#4479BA; color: #FFFFFF;" + |High dose Cosintropin stimulation test (250 mcg) | ||
|- | |- | ||
|Classic salt wasting | | align="center" style="background:#DCDCDC;" + |'''Classic salt-wasting''' | ||
| | | | ||
* Greater than 3500 ng/dL | * Greater than 3500 ng/dL | ||
| Line 20: | Line 20: | ||
* Not necessary | * Not necessary | ||
|- | |- | ||
|Classic non- | | align="center" style="background:#DCDCDC;" + |'''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 | | align="center" style="background:#DCDCDC;" + |'''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]] | ||
=== 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}} | ||
{{WH}} | |||
{{WS}} | |||
[[Category:Disease]] | |||
[[Category:Pediatrics]] | |||
[[Category:Endocrinology]] | |||
[[Category:Genetic disorders]] | |||
[[Category:Intersexuality]] | |||
[[Category:Medicine]] | |||
[[Category: Up-To-Date]] | |||
Latest revision as of 15:34, 24 July 2020
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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 |
|
|
| 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
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.