Congenital adrenal hyperplasia classification
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Congenital adrenal hyperplasia main page |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Mehrian Jafarizade, M.D [2]
Overview
Classification
Congenital adrenal hyperplasia may be classified in to nine types, based on specified genetic mutation as following:[1]
21-hydroxylase deficiency, genetic defects: CYP21A2. The most common cause of congenital adrenal hyperplasia worldwide, accounting for more than 90 percent of cases, is 21-hydroxylase deficiency.[2]
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
- ↑ El-Maouche D, Arlt W, Merke DP (2017). "Congenital adrenal hyperplasia". Lancet. doi:10.1016/S0140-6736(17)31431-9. PMID 28576284.
- ↑ White PC, Speiser PW (2000). "Congenital adrenal hyperplasia due to 21-hydroxylase deficiency". Endocr. Rev. 21 (3): 245–91. doi:10.1210/edrv.21.3.0398. PMID 10857554.