Congenital adrenal hyperplasia classification: Difference between revisions

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==Classification==
==Classification==
Congenital adrenal hyperplasia may be classified in to nine types, based on specified genetic mutation as following:  
Congenital adrenal hyperplasia may be classified in to nine 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
** 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>
* 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


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>
* Lipoid adrenal hyperplasia
** genetic defects: StAR


 
* Cholesterol side chain cleavage enzyme deficiency
11β-hydroxylase deficiency, genetic defects: CYP11B1
** genetic defects: CYP11A1
 
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==
==References==

Revision as of 19:36, 6 July 2017

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]

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
  • Lipoid adrenal hyperplasia
    • genetic defects: StAR
  • Cholesterol side chain cleavage enzyme deficiency
    • genetic defects: CYP11A1

References

  1. ↑ El-Maouche D, Arlt W, Merke DP (2017). "Congenital adrenal hyperplasia". Lancet. doi:10.1016/S0140-6736(17)31431-9. PMID 28576284.
  2. ↑ 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.


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