Congenital adrenal hyperplasia laboratory tests

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Congenital adrenal hyperplasia main page
Overview
Classification 21-hydroxylase deficiency
11β-hydroxylase deficiency
17 alpha-hydroxylase deficiency
3 beta-hydroxysteroid dehydrogenase deficiency
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Lipoid congenital adrenal hyperplasia
Differential Diagnosis

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [2]

Laboratory Findings

Electrolyte and Biomarker Studies

In 11-hydroxylase deficiencies, hypokalemia is present in 2/3 and help distinguish from 21-hydroxylase deficiencies.

References

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