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 include [[hyponatremia]], [[hyperkalemia]], and low [[cortisol


==Laboratory Findings==
==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 differs in each disease type.


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* Needs for confirmation
* Needs for confirmation
|}
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===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>
===Salt-wasting crises in infancy in classic type===
===Childhood onset (simple virilizing) congenital adrenal hyperplasia===
* [[hyponatremia]], with a serum Na<sup>+</sup> typically between 105 and 125 mEq/L
* 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>
* [[Hyperkalemia]] in these infants can be very high
===Late onset (nonclassical) congenital adrenal hyperplasia===
* Metabolic acidosis
* 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>
* [[Hypoglycemia]] may be present.  
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

Revision as of 16:06, 14 July 2017

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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

Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency differs in each disease type.

21-hydroxylase deficiency type 17-hydroxyprogesterone level ACTH 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
  • Adult female greater than 200 ng/dL, morning serum sample during the follicular phase of the menstrual cycle
  • Needs for confirmation

Salt-wasting crises in infancy in classic type

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