21-hydroxylase deficiency laboratory findings: Difference between revisions
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* 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. | * 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. | ||
===Childhood onset (simple virilizing) | ===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. | * 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. | ||
===Late onset (nonclassical) | ===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. | * 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. | ||
Revision as of 17:19, 16 September 2015
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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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Diagnosis |
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Treatment |
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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: Cafer Zorkun, M.D., Ph.D. [2] Ahmad Al Maradni, M.D. [3]
Overview
Laboratory findings consistent with the diagnosis of 21-hydroxylase deficient congenital adrenal hyperplasia include hyponatremia, hyperkalemia, and low cortisol level.
Laboratory Findings
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.
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.
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.