Congenital adrenal hyperplasia classification: Difference between revisions
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==Classification== | ==Classification== | ||
Congenital adrenal hyperplasia may be classified in to | Congenital adrenal hyperplasia may be classified in to seven different types, based on specified genetic mutation as following:<ref name="pmid28576284">{{cite journal |vauthors=El-Maouche D, Arlt W, Merke DP |title=Congenital adrenal hyperplasia |journal=Lancet |volume= |issue= |pages= |year=2017 |pmid=28576284 |doi=10.1016/S0140-6736(17)31431-9 |url=}}</ref> | ||
* 21-hydroxylase deficiency | * 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.<ref name="pmid10857554">{{cite journal |vauthors=White PC, Speiser PW |title=Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=Endocr. Rev. |volume=21 |issue=3 |pages=245–91 |year=2000 |pmid=10857554 |doi=10.1210/edrv.21.3.0398 |url=}}</ref> | ** The most common cause of congenital adrenal hyperplasia worldwide, accounting for more than 90 percent of cases, is 21-hydroxylase deficiency.<ref name="pmid10857554">{{cite journal |vauthors=White PC, Speiser PW |title=Congenital adrenal hyperplasia due to 21-hydroxylase deficiency |journal=Endocr. Rev. |volume=21 |issue=3 |pages=245–91 |year=2000 |pmid=10857554 |doi=10.1210/edrv.21.3.0398 |url=}}</ref> | ||
* 11β-hydroxylase deficiency | * 11β-hydroxylase deficiency | ||
** | ** Genetic defect: CYP11B1 | ||
* 17α-hydroxylase/ 17,20-lyase deficiency | * 17α-hydroxylase/ 17,20-lyase deficiency | ||
** | ** Genetic defect: CYP17A1 | ||
* 3β-hydroxy-steroid dehydrogenase type 2 deficiency | * 3β-hydroxy-steroid dehydrogenase type 2 deficiency | ||
** | ** Genetic defect: HSD3B2 | ||
* P450 oxidoreductase deficiency | * P450 oxidoreductase deficiency | ||
** | ** Genetic defect: POR | ||
* Lipoid adrenal hyperplasia | * Lipoid adrenal hyperplasia | ||
** | ** Genetic defect: StAR | ||
* Cholesterol side chain cleavage enzyme deficiency | * Cholesterol side chain cleavage enzyme deficiency | ||
** | ** Genetic defect: CYP11A1 | ||
==References== | ==References== | ||
Revision as of 14:37, 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 90 percent of cases, is 21-hydroxylase deficiency.[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.
- ↑ 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.