21-hydroxylase deficiency laboratory findings: Difference between revisions

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{{21-hydroxylase deficiency}}
{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}
==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.


{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
==Laboratory Findings==


{{CMG}}; '''Associate Editor-In-Chief:''' {{CZ}}
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>


==Overview==
{| class="wikitable"
! 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;" + |High dose Cosintropin stimulation test (250 mcg)
|-
| align="center" style="background:#DCDCDC;" + |'''Classic salt-wasting'''
|
* Greater than 3500 ng/dL
|
* Not necessary
|-
| align="center" style="background:#DCDCDC;" + |'''Classic non salt-wasting'''
|
* Greater than 3500 ng/dL
|
* Not necessary
|-
| align="center" style="background:#DCDCDC;" + |'''Non-classic type'''
|
* Children: greater than 82 ng/dL
* Adult females: greater than 200 ng/dL, morning serum sample during the [[follicular phase]] of the [[menstrual cycle]]
|
* Necessary for confirmation
|}


==Laboratory Findings==
===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]]


===Salt-wasting crises in infancy===
=== Genetic testing ===
* Basic chemistries will reveal [[hyponatremia]], with a serum Na<sup>+</sup> typically between 105 and 125 mEq/L. [[Hyperkalemia]] in these infants can be extreme&mdash;levels of K<sup>+</sup> above 10 mEq/L are not unusual&mdash;as can the degree of [[metabolic acidosis]]. [[Hypoglycemia]] may be present. This is termed a salt-wasting crisis and rapidly causes death if not treated.
[[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]].
 
===Childhood onset (simple virilizing) CAH===
A diagnosis of SVCAH is usually confirmed by discovering extreme elevations of [[17-hydroxyprogesterone]] along with moderately high testosterone levels. A [[ACTH|cosyntropin]] stimulation test may be needed in mild cases, but usually the random levels of 17OHP are high enough to confirm the diagnosis.
===Late onset (nonclassical) CAH===
Diagnosis of late-onset CAH may be suspected from a high 17-hydroxyprogesterone level, but some cases are so mild that the elevation is only demonstrable after cosyntropin stimulation.


==References==
==References==
{{Reflist|2}}
{{Reflist|2}}
 
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Latest revision as of 15:34, 24 July 2020

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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
  • Greater than 3500 ng/dL
  • Not necessary
Classic non salt-wasting
  • Greater than 3500 ng/dL
  • Not necessary
Non-classic type
  • Necessary for confirmation

Salt-wasting crises in infancy in classic type

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

  1. Speiser PW, White PC (2003). "Congenital adrenal hyperplasia". N. Engl. J. Med. 349 (8): 776–88. doi:10.1056/NEJMra021561. PMID 12930931.
  2. 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.

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