Congenital adrenal hyperplasia classification: Difference between revisions
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* 21-hydroxylase deficiency | * 21-hydroxylase deficiency | ||
** Genetic defects: CYP21A2 | ** Genetic defects: CYP21A2 | ||
** The most common cause of congenital adrenal hyperplasia worldwide, accounting for more than | ** 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: | ||
** 21-OHD is classified into 3 subtypes according to clinical severity: | |||
*** classic salt wasting (SW) | *** classic salt wasting (SW) | ||
*** classic simple virilizing (SV) | *** classic simple virilizing (SV) | ||
*** Nonclassic CAH (NCCAH; mild or late onset) | *** Nonclassic CAH (NCCAH; mild or late onset)<ref name="pmid28476231">{{cite journal |vauthors=Hannah-Shmouni F, Chen W, Merke DP |title=Genetics of Congenital Adrenal Hyperplasia |journal=Endocrinol. Metab. Clin. North Am. |volume=46 |issue=2 |pages=435–458 |year=2017 |pmid=28476231 |doi=10.1016/j.ecl.2017.01.008 |url=}}</ref> | ||
* 11β-hydroxylase deficiency | * 11β-hydroxylase deficiency | ||
** Genetic defect: CYP11B1 | ** Genetic defect: CYP11B1 | ||
Revision as of 17:22, 7 July 2017
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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 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.