21-hydroxylase deficiency classification: Difference between revisions

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{{Congenital adrenal hyperplasia due to 21-hydroxylase deficiency}}
{{21-hydroxylase deficiency}}


{{CMG}}; '''Associate Editor-In-Chief:''' {{CZ}} {{AAM}}
{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}, {{AAM}}


==Overview==
==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).
21-hydroxylase deficiency may be classified according to the severity of disease and time of onset into two forms, classic and non-classic. The classic form can be sub-divided into two sub-types, which are salt-wasting and non-salt wasting 21-hydroxylase deficiency.
 
{{CMG}}; '''Associate Editor-In-Chief:''' {{MJ}}
 
==Overview==
 
==Classification==
==Classification==
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 my be classified by clinical manifestations in to two forms:
* 21-hydroxylase deficiency
*Classical form, most severe form of 21-hydroxylase deficiency, presents during the [[neonatal]] period and early [[infancy]]. The classic form can be classified in to two subtypes based on [[aldosterone]] status:
** Genetic defects: CYP21A2
**Classic salt wasting, [[aldosterone]] deficient.
** 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 non-salt wasting, normal [[aldosterone]].
*** classic salt wasting (SW)
*Non-classic form or late-onset 21-hydroxylase deficiency, presents later during the [[adolescence]] period.<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><ref name="pmid20823466">{{cite journal |vauthors=Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC |title=Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline |journal=J. Clin. Endocrinol. Metab. |volume=95 |issue=9 |pages=4133–60 |year=2010 |pmid=20823466 |pmc=2936060 |doi=10.1210/jc.2009-2631 |url=}}</ref>
*** classic simple virilizing (SV)
*** 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 
** 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
== References ==
** Genetic defect: StAR
 
* Cholesterol side chain cleavage enzyme deficiency
** Genetic defect: CYP11A1
 
==References==
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{{Reflist|2}}
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Latest revision as of 15:40, 24 July 2020

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor-In-Chief: Mehrian Jafarizade, M.D [2], Ahmad Al Maradni, M.D. [3]

Overview

21-hydroxylase deficiency may be classified according to the severity of disease and time of onset into two forms, classic and non-classic. The classic form can be sub-divided into two sub-types, which are salt-wasting and non-salt wasting 21-hydroxylase deficiency.

Classification

21-hydroxylase deficiency my be classified by clinical manifestations in to two forms:

  • Classical form, most severe form of 21-hydroxylase deficiency, presents during the neonatal period and early infancy. The classic form can be classified in to two subtypes based on aldosterone status:
  • Non-classic form or late-onset 21-hydroxylase deficiency, presents later during the adolescence period.[1][2]

References

  1. 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.
  2. Speiser PW, Azziz R, Baskin LS, Ghizzoni L, Hensle TW, Merke DP, Meyer-Bahlburg HF, Miller WL, Montori VM, Oberfield SE, Ritzen M, White PC (2010). "Congenital adrenal hyperplasia due to steroid 21-hydroxylase deficiency: an Endocrine Society clinical practice guideline". J. Clin. Endocrinol. Metab. 95 (9): 4133–60. doi:10.1210/jc.2009-2631. PMC 2936060. PMID 20823466.

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