21-hydroxylase deficiency classification
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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: Cafer Zorkun, M.D., Ph.D. [2] Ahmad Al Maradni, M.D. [3]
Overview
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency may be classified into several subtypes based on severity, time of onset (mild, moderate, and severe), and the presence of virilization (stage I to stage V).
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [4]; Associate Editor-In-Chief: Mehrian Jafarizade, M.D [5]
Overview
Classification
Congenital adrenal hyperplasia may be classified in to seven different 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 95 percent of cases, is 21-hydroxylase deficiency** 21-OHD is classified into 3 subtypes according to clinical severity:
- classic salt wasting (SW)
- classic simple virilizing (SV)
- Nonclassic CAH (NCCAH; mild or late onset)[2]
- 11β-hydroxylase deficiency
- Genetic defect: CYP11B1
- 17α-hydroxylase/ 17,20-lyase deficiency
- Genetic defect: CYP17A1
- 3β-hydroxy-steroid dehydrogenase type 2 deficiency
- Genetic defect: HSD3B2
- P450 oxidoreductase deficiency
- Genetic defect: POR
- Lipoid adrenal hyperplasia
- Genetic defect: StAR
- Cholesterol side chain cleavage enzyme deficiency
- Genetic defect: CYP11A1
References
- ↑ El-Maouche D, Arlt W, Merke DP (2017). "Congenital adrenal hyperplasia". Lancet. doi:10.1016/S0140-6736(17)31431-9. PMID 28576284.
- ↑ Hannah-Shmouni F, Chen W, Merke DP (2017). "Genetics of Congenital Adrenal Hyperplasia". Endocrinol. Metab. Clin. North Am. 46 (2): 435–458. doi:10.1016/j.ecl.2017.01.008. PMID 28476231.