Congenital adrenal hyperplasia classification: Difference between revisions

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{{Congenital adrenal hyperplasia}}
{{Congenital adrenal hyperplasia}}
{{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>
Congenital adrenal hyperplasia is classified into seven types based on the genetic causes that lead to hyperplasia and hormonal imbalance.
* 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)<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
** Genetic defect: StAR


* Cholesterol side chain cleavage enzyme deficiency
{| align="center" class="wikitable" style="border: 0px; font-size: 90%; margin: 3px;"
** Genetic defect: CYP11A1
! align="center" style="background:#DCDCDC;" rowspan="2" colspan="2" |Disease
! align="center" style="background:#DCDCDC;" colspan="2" |History and symptoms
! align="center" style="background:#DCDCDC;" colspan="3" |Laboratory findings
! align="center" style="background:#DCDCDC;" |Defective gene
|-
!Blood pressure
!Genitalia
!Increased
!Decreased
!K levels
!
|-
| align="center" style="padding: 5px 5px; background: #DCDCDC;" rowspan="2" |[[21-hydroxylase deficiency]]
|Classic type
|
* Low in salt-wasting


==References==
* Normal in non-salt-wasting
{{Reflist|2}}
|
* Female: ambiguous


[[Category:Disease]]
* Male: normal or scrotal pigmentation and large phallus 
[[Category:Pediatrics]]
|
[[Category:Endocrinology]]
* [[Deoxycorticosterone]]
[[Category:Genetic disorders]]
* 11-Deoxy-[[cortisol]]
[[Category:Intersexuality]]
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]], mild elevation
|
* [[Cortisol]]
* [[Corticosterone]]
* [[Aldosterone]]
|
* High in salt wasting type
* Normal in non salt wasting
|
* CYP21A1 and CYP21A2 gene
|-
|Non-classic type
|
* Normal
|
* Female: virilization after puberty
* Male: normal appearance
|
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]]
* Exaggerated [[Androstenedione]], [[DHEA]], and [[17-Hydroxyprogesterone|17-hydroxyprogesterone]]
response to [[ACTH]]
|
|
* Normal
|
* CYP21A1 and CYP21A2 gene
|-
| align="center" style="padding: 5px 5px; background: #DCDCDC;" colspan="2" |[[17 alpha-hydroxylase deficiency|17-α hydroxylase deficiency]]
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
* Hypertension
|
* Female: normal
* Male: ambiguous
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
* [[Deoxycorticosterone]]
* [[Corticosterone]]
* [[Progesterone]]
|
* [[Cortisol]]
* [[Aldosterone]]
|
* Low
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
* CYP17A1
|-
| align="center" style="padding: 5px 5px; background: #DCDCDC;" colspan="2" |[[11β-hydroxylase deficiency|11-β hydroxylase deficiency]]
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
* Hypertension
|
* Female: ambiguous


{{WikiDoc Help Menu}}
* Male: normal or scrotal pigmentation and large phallus
{{WikiDoc Sources}}
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
* [[Deoxycorticosterone]]
* 11-Deoxy-[[cortisol]]
* [[17-Hydroxyprogesterone|17-hydroxyprogesterone]], mild elevation
|
* [[Cortisol]]
* [[Corticosterone]]
* [[Aldosterone]]
|
* Low
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
* CYP11B1
|-
| align="center" style="padding: 5px 5px; background: #DCDCDC;" colspan="2" |3β-Hydroxysteroid Dehydrogenase
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
|
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
* [[Dehydroepiandrosterone]]
* [[17-hydroxypregnenolone]]
* [[Pregnenolone]]
|
* [[Cortisol]]
* [[Aldosterone]]
|
* High
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
|-
| align="center" style="padding: 5px 5px; background: #DCDCDC;" colspan="2" |Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
|
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
|
|
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
|-
| align="center" style="padding: 5px 5px; background: #DCDCDC;" colspan="2" |Congenital lipoid adrenal hyperplasia
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
|
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
|
|
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
|-
| align="center" style="padding: 5px 5px; background: #DCDCDC;" colspan="2" |Cholesterol side-chain cleavage enzyme deficiency
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
|
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
|
|
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
|}

Latest revision as of 15:25, 1 August 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

Classification

Congenital adrenal hyperplasia is classified into seven types based on the genetic causes that lead to hyperplasia and hormonal imbalance.

Disease History and symptoms Laboratory findings Defective gene
Blood pressure Genitalia Increased Decreased K levels
21-hydroxylase deficiency Classic type
  • Low in salt-wasting
  • Normal in non-salt-wasting
  • Female: ambiguous
  • Male: normal or scrotal pigmentation and large phallus
  • High in salt wasting type
  • Normal in non salt wasting
  • CYP21A1 and CYP21A2 gene
Non-classic type
  • Normal
  • Female: virilization after puberty
  • Male: normal appearance

response to ACTH

  • Normal
  • CYP21A1 and CYP21A2 gene
17-α hydroxylase deficiency
  • Hypertension
  • Female: normal
  • Male: ambiguous
  • Low
  • CYP17A1
11-β hydroxylase deficiency
  • Hypertension
  • Female: ambiguous
  • Male: normal or scrotal pigmentation and large phallus
  • Low
  • CYP11B1
3β-Hydroxysteroid Dehydrogenase
  • High
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Congenital lipoid adrenal hyperplasia
Cholesterol side-chain cleavage enzyme deficiency
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