Congenital adrenal hyperplasia: Difference between revisions

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! align="center" style="background:#DCDCDC;" rowspan="2" colspan="2" |Disease
! 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="2" |History and symptoms
! align="center" style="background:#DCDCDC;" |Laboratory findings
! align="center" style="background:#DCDCDC;" colspan="2" |Laboratory findings
! align="center" style="background:#DCDCDC;" |Defective gene
! align="center" style="background:#DCDCDC;" |Defective gene
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!Genitalia
!Genitalia
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!K levels
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* Male: normal or scrotal pigmentation and large phallus   
* Male: normal or scrotal pigmentation and large phallus   
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Increased:
Increased:
* 17-OHP
* 17-OHP
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* Corticosterone (salt-wasting)
* Corticosterone (salt-wasting)
* Cortisol (simple virilizing)
* Cortisol (simple virilizing)
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* High in salt wasting type
* Normal in non salt wasting
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* Exaggerated androstene-dione, DHEA, and 17-OHP
* Exaggerated androstene-dione, DHEA, and 17-OHP
response to ACTH
response to ACTH
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* Normal
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| align="center" style="padding: 5px 5px; background: #DCDCDC;" colspan="2" |17a-Hydroxylase deficiency
| align="center" style="padding: 5px 5px; background: #DCDCDC;" colspan="2" |17a-Hydroxylase deficiency
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* Hypertension
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* Decreased 17OH-steroids, cortisol, aldosterone, androgens and estrogens
* Decreased 17OH-steroids, cortisol, aldosterone, androgens and estrogens
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* Low
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |''CYP17A1''
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |''CYP17A1''
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|-
| align="center" style="padding: 5px 5px; background: #DCDCDC;" |11β-hydroxylase deficiency
| align="center" style="padding: 5px 5px; background: #DCDCDC;" colspan="2" |11β-hydroxylase deficiency
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* Hypertension
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* Female: ambiguous
* Male: normal or scrotal pigmentation and large phallus
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| align="center" style="padding: 5px 5px; background: #F5F5F5;" |
* Indreased DOC, 11-deoxycortisol
* Indreased DOC, 11-deoxycortisol


* Decreased corticosterone, cortisol,  aldosterone,  androgens
* Decreased corticosterone, cortisol,  aldosterone,  androgens
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* Low
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |''CYP11B1''
| align="center" style="padding: 5px 5px; background: #F5F5F5;" |''CYP11B1''
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* Cortisol
* Cortisol
* Aldosterone
* Aldosterone
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* High
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Revision as of 13:57, 20 July 2017

This page contains general information about Congenital adrenal hyperplasia. For more information on specific types, please visit the pages on 21-hydroxylase deficiency, 17a-Hydroxylase deficiency, 11β-hydroxylase deficiency, 3-beta-hydroxysteroid dehydrogenase, Cytochrome P450-oxidoreductase (POR) deficiency (ORD), congenital lipoid adrenal hyperplasia, cholesterol side-chain cleavage enzyme deficiency .


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(s)-in-Chief: Mehrian Jafarizade, M.D [2]

Synonyms and keywords: Congenital adrenal hyperplasia, CAH, Adrenal hyperplasia

Overview

Pathophisiology

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 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

Increased:

  • 17-OHP
  • Progesterone
  • Androstenedione
  • DHEA

Decreased:

  • Aldosterone
  • Corticosterone (salt-wasting)
  • Cortisol (simple virilizing)
  • High in salt wasting type
  • Normal in non salt wasting
Non-classic type
  • Normal
  • Female: virilization after puberty
  • Male: normal appearance
 Increased:
  • 17-OHP
  • Exaggerated androstene-dione, DHEA, and 17-OHP

response to ACTH

  • Normal
17a-Hydroxylase deficiency
  • Hypertension
  • Increased DOC, corticosterone
  • Decreased 17OH-steroids, cortisol, aldosterone, androgens and estrogens
  • Low
 CYP17A1
11β-hydroxylase deficiency
  • Hypertension
  • Female: ambiguous
  • Male: normal or scrotal pigmentation and large phallus
  • Indreased DOC, 11-deoxycortisol
  • Decreased corticosterone, cortisol, aldosterone, androgens
  • Low
 CYP11B1
3-beta-hydroxysteroid dehydrogenase Increased:
  • DHEA
  • 17-OH pregneno-lone
  • Pregnenolone

Decreased:

  • Cortisol
  • Aldosterone
  • High
Cytochrome P450-oxidoreductase (POR) deficiency (ORD)
Congenital lipoid adrenal hyperplasia
Cholesterol side-chain cleavage enzyme deficiency

Complications

Screening

Diagnosis

Prevention

References

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