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:''' {{ | {{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 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 include: | ||
{| class="wikitable" | |||
!21-hydroxylase deficiency type | |||
!17-hydroxyprogesterone | |||
!17-hydroxyprogesterone | |||
!ACTH stimulation testing greater than 200 ng/dL | |||
|- | |||
|classic salt wasting | |||
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|- | |||
|classic non-salt wasting | |||
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|- | |||
|Non-classic type | |||
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|} | |||
===Salt-wasting crises in infancy=== | ===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—levels of K<sup>+</sup> above 10 mEq/L are not unusual—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> | * 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—levels of K<sup>+</sup> above 10 mEq/L are not unusual—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> | ||
===Childhood onset (simple virilizing) congenital adrenal hyperplasia=== | ===Childhood onset (simple virilizing) congenital adrenal hyperplasia=== | ||
* 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> | * 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> | ||
===Late onset (nonclassical) congenital adrenal hyperplasia=== | ===Late onset (nonclassical) congenital adrenal hyperplasia=== | ||
* 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> | * 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> | ||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Revision as of 15:50, 14 July 2017
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Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Microchapters |
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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 congenital adrenal hyperplasia due to 21-hydroxylase deficiency include hyponatremia, hyperkalemia, and low [[cortisol
Laboratory Findings
Laboratory findings consistent with the diagnosis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency include:
| 21-hydroxylase deficiency type | 17-hydroxyprogesterone | 17-hydroxyprogesterone | ACTH stimulation testing greater than 200 ng/dL |
|---|---|---|---|
| classic salt wasting | |||
| classic non-salt wasting | |||
| Non-classic type |
Salt-wasting crises in infancy
- Basic chemistries will reveal hyponatremia, with a serum Na+ typically between 105 and 125 mEq/L. Hyperkalemia in these infants can be extreme—levels of K+ above 10 mEq/L are not unusual—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.[1]
Childhood onset (simple virilizing) congenital adrenal hyperplasia
- Diagnosis of simple virilizing congenital adrenal hyperplasia type is usually confirmed by discovering extreme elevations of 17-hydroxyprogesterone along with moderately high testosterone levels. Cosyntropin stimulation test may be needed in mild cases, but usually the random levels of 17OHP are high enough to confirm the diagnosis.[1]
Late onset (nonclassical) congenital adrenal hyperplasia
- 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.[1]