21-hydroxylase deficiency laboratory findings: Difference between revisions
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{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}} | {{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}} | ||
{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}} | {{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}} | ||
==Overview== | ==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== | ||
Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency differs in each disease type. | 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> | ||
{| 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) | ||
|- | |- | ||
| | |Classic salt wasting | ||
| | |* Greater than 3500 ng/dL | ||
|Not necessary | |* Not necessary | ||
|- | |- | ||
| | |Classic non-salt wasting | ||
| | |* Greater than 3500 ng/dL | ||
|Not necessary | |* Not necessary | ||
|- | |- | ||
|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 | |||
|} | |} | ||
===Salt-wasting crises in infancy in classic type=== | ===Salt-wasting crises in infancy in classic type=== | ||
* Low serum cortisol level | |||
* [[hyponatremia]], with a serum Na<sup>+</sup> typically between 105 and 125 mEq/L | * [[hyponatremia]], with a serum Na<sup>+</sup> 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 16:17, 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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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) |
|---|---|---|
| Classic salt wasting | * Greater than 3500 ng/dL | * Not necessary |
| Classic non-salt wasting | * Greater than 3500 ng/dL | * Not necessary |
| Non-classic type | * Children greater than 82 ng/dL
|
* Needs for confirmation |
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.