21-hydroxylase deficiency laboratory findings: Difference between revisions

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Latest revision as of 15:34, 24 July 2020

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	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

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.

Template:WH Template:WS

[pmid12930931-1] Speiser PW, White PC (2003). "Congenital adrenal hyperplasia". N. Engl. J. Med. 349 (8): 776–88. doi:10.1056/NEJMra021561. PMID 12930931.

[pmid10857554-2] 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.

[1]

[2]

@@ Line 1: / Line 1: @@
 __NOTOC__
-{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
+{{21-hydroxylase deficiency}}
-{{CMG}}; '''Associate Editor-In-Chief:''' {{CZ}} {{AAM}}
+{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}
 ==Overview==
-Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency include [[hyponatremia]], [[hyperkalemia]], and low [[cortisol level]].
+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 include:
+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>
-===Salt-wasting crises in infancy===
-* 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.<ref name="Wikipeadia"> https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency#Newborn_screening</ref>
+{| class="wikitable"
-===Childhood onset (simple virilizing) congenital adrenal hyperplasia===
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |21-hydroxylase deficiency type
-* Diagnosis of simple virilizing congenital adrenal hyperplasia type is usually confirmed by discovering extreme elevations of [[17-hydroxyprogesterone]] along with moderately high testosterone levels. [[ACTH|Cosyntropin]] stimulation test may be needed in mild cases, but usually the random levels of [[17OHP]] are high enough to confirm the diagnosis.<ref name="Wikipeadia"> https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency#Newborn_screening</ref>
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |17-hydroxyprogesterone level
-===Late onset (nonclassical) congenital adrenal hyperplasia===
+! align="center" style="background:#4479BA; color: #FFFFFF;" + |High dose Cosintropin stimulation test (250 mcg)
-* Diagnosis of late-onset congenital adrenal hyperplasia may be suspected from a high 17-hydroxyprogesterone level, but some cases are so mild that the elevation is only demonstrable after cosyntropin stimulation.<ref name="Wikipeadia"> https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia_due_to_21-hydroxylase_deficiency#Newborn_screening</ref>
+|-
+| 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
+|}
+===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==
 {{Reflist|2}}
+{{WH}}
+{{WS}}
+[[Category:Disease]]
 [[Category:Pediatrics]]
 [[Category:Endocrinology]]
 [[Category:Genetic disorders]]
 [[Category:Intersexuality]]
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