Congenital adrenal hyperplasia classification

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: Mehrian Jafarizade, M.D [2]

Classification

The most common cause of congenital adrenal hyperplasia worldwide, accounting for more than 90 percent of cases, is 21-hydroxylase deficiency.

21-hydroxylase deficiency, genetic defects: CYP21A2

11β-hydroxylase deficiency, genetic defects: CYP11B1

17α-hydroxylase/ 17,20-lyase deficiency, genetic defects: CYP17A1

3β-hydroxy-steroid dehydrogenase type 2 deficiency,genetic defects: HSD3B2

P450 oxidoreductase deficiency, genetic defects: POR

Hexose-6-phosphate-dehydrogenase deficiency (apparent cortisone reductase deficiency [ACRD])

PAPSS2 deficiency (apparent dehydroepiandrosterone [DHEA] sulfotransferase deficiency

Lipoid adrenal hyperplasia, genetic defects: StAR

Cholesterol side chain cleavage enzyme deficiency, genetic defects: CYP11A1

References

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