Congenital adrenal hyperplasia: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{SI}} | |||
{{CMG}}; {{AE}} {{CZ}}; {{Ammu}} | {{CMG}}; {{AE}} {{CZ}}; {{Ammu}} | ||
{{SK}} CAH; Adrenogenital syndrome | {{SK}} CAH; Adrenogenital syndrome | ||
==Overview== | ==Overview== | ||
Congenital adrenal hyperplasia is a group of [[autosome|autosomal]] [[recessive]] [[disease]]s that result from multiple [[genetic]] mutations. The genes encode a number of enzymes that mediate the adrenal glands [[steroidogenesis]] pathway. As a result, mutations in such genes will result in various enzyme deficiencies that lead to a disequilibrium of the biochemical reactions mediating the production of cortisol, aldesterone, and androgens.<ref name="Warrell2005">{{cite book|author=David A. Warrell|title=Oxford textbook of medicine: Sections 18-33|url=https://books.google.com/books?id=hL1NKQJlY1IC&pg=PA261|accessdate=14 June 2010|year=2005|publisher=Oxford University Press|isbn=978-0-19-856978-7|pages=261–}}</ref> The outcome of congenital adrenal hyperplasia is either an excessive or deficient production of the aforementioned hormones, which alters the development of both [[primary sex characteristic|primary]] and [[secondary sex characteristic]]s among affected patients.<ref name="MilunskyMilunsky2010">{{cite book|author1=Aubrey Milunsky|author2=Jeff Milunsky|title=Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment|url=https://books.google.com/books?id=oKCmA4dOYtMC&pg=PA600|accessdate=14 June 2010|date=29 January 2010|publisher=John Wiley and Sons|isbn=978-1-4051-9087-9|pages=600–}}</ref> Congenital adrenal hyperplasia may be classified according to | Congenital adrenal hyperplasia is a group of [[autosome|autosomal]] [[recessive]] [[disease]]s that result from multiple [[genetic]] mutations. The genes encode a number of enzymes that mediate the adrenal glands [[steroidogenesis]] pathway. As a result, mutations in such genes will result in various enzyme deficiencies that lead to a disequilibrium of the biochemical reactions mediating the production of cortisol, aldesterone, and androgens.<ref name="Warrell2005">{{cite book|author=David A. Warrell|title=Oxford textbook of medicine: Sections 18-33|url=https://books.google.com/books?id=hL1NKQJlY1IC&pg=PA261|accessdate=14 June 2010|year=2005|publisher=Oxford University Press|isbn=978-0-19-856978-7|pages=261–}}</ref> The outcome of congenital adrenal hyperplasia is either an excessive or deficient production of the aforementioned hormones, which alters the development of both [[primary sex characteristic|primary]] and [[secondary sex characteristic]]s among affected patients.<ref name="MilunskyMilunsky2010">{{cite book|author1=Aubrey Milunsky|author2=Jeff Milunsky|title=Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment|url=https://books.google.com/books?id=oKCmA4dOYtMC&pg=PA600|accessdate=14 June 2010|date=29 January 2010|publisher=John Wiley and Sons|isbn=978-1-4051-9087-9|pages=600–}}</ref> Congenital adrenal hyperplasia may be classified according to | ||
biochemical enzyme deficiency into commonly five subtypes: [[lipoid congenital adrenal hyperplasia]], [[congenital adrenal hyperplasia due to 21-hydroxylase deficiency]], [[congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency]], [[congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency]], and [[congenital adrenal hyperplasia due to 11β-hydroxylase deficiency]]. | biochemical enzyme deficiency into commonly five subtypes: [[lipoid congenital adrenal hyperplasia]], [[congenital adrenal hyperplasia due to 21-hydroxylase deficiency]], [[congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency]], [[congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency]], and [[congenital adrenal hyperplasia due to 11β-hydroxylase deficiency]]. | ||
===Congenital Adrenal Hyperplasia=== | |||
==Congenital Adrenal Hyperplasia== | |||
* The figure below illustrates the biochemical reactions of the adrenal glands [[steroidogenesis]] pathway: | * The figure below illustrates the biochemical reactions of the adrenal glands [[steroidogenesis]] pathway: | ||
<br> | <br> | ||
[[Image:DHEA1_svg.png|thumb|center|800px|Production of DHEA from Cholesterol. ([[Cortisol]] is a [[glucocorticoid]].)]] | [[Image:DHEA1_svg.png|thumb|center|800px|Production of DHEA from Cholesterol. ([[Cortisol]] is a [[glucocorticoid]].)]] | ||
==Historical Perspective== | |||
==Classification== | ==Classification== | ||
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{{Familytree/end}} | {{Familytree/end}} | ||
<br> | <br> | ||
==Biochemistry== | ===Biochemistry=== | ||
* The table below lists the specific biochemical abnormalities present among the different types of congenital adrenal hyperplasia: | * The table below lists the specific biochemical abnormalities present among the different types of congenital adrenal hyperplasia: | ||
<br> | <br> | ||
| Line 113: | Line 116: | ||
:[[Cortisol]]<br/>[[Corticosterone]] | :[[Cortisol]]<br/>[[Corticosterone]] | ||
|} | |} | ||
==Pathophysiology== | |||
==Causes== | |||
==Differentiating {{PAGENAME}} from Other Diseases== | |||
==Epidemiology and Demographics== | |||
==Risk Factors== | |||
==Screening== | |||
==Natural History, Complications, and Prognosis== | |||
==Diagnosis== | |||
===Diagnostic Criteria=== | |||
===History and Symptoms=== | |||
===Physical Examination=== | |||
===Laboratory Findings=== | |||
===Imaging Findings=== | |||
===Other Diagnostic Studies=== | |||
==Treatment== | |||
===Medical Therapy=== | |||
===Surgery=== | |||
===Prevention=== | |||
==Reference== | ==Reference== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
[[Category:Endocrinology]] | |||
{{WS}} | |||
{{WH}} | |||
Revision as of 16:22, 22 July 2016
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Cafer Zorkun, M.D., Ph.D. [2]; Ammu Susheela, M.D. [3]
Synonyms and keywords: CAH; Adrenogenital syndrome
Overview
Congenital adrenal hyperplasia is a group of autosomal recessive diseases that result from multiple genetic mutations. The genes encode a number of enzymes that mediate the adrenal glands steroidogenesis pathway. As a result, mutations in such genes will result in various enzyme deficiencies that lead to a disequilibrium of the biochemical reactions mediating the production of cortisol, aldesterone, and androgens.[1] The outcome of congenital adrenal hyperplasia is either an excessive or deficient production of the aforementioned hormones, which alters the development of both primary and secondary sex characteristics among affected patients.[2] Congenital adrenal hyperplasia may be classified according to biochemical enzyme deficiency into commonly five subtypes: lipoid congenital adrenal hyperplasia, congenital adrenal hyperplasia due to 21-hydroxylase deficiency, congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency, congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency, and congenital adrenal hyperplasia due to 11β-hydroxylase deficiency.
Congenital Adrenal Hyperplasia
- The figure below illustrates the biochemical reactions of the adrenal glands steroidogenesis pathway:
Historical Perspective
Classification
- Congenital adrenal hyperplasia may be classified according to biochemical enzyme deficiency into commonly the following types:
Congenital Adrenal Hyperplasia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Biochemistry
- The table below lists the specific biochemical abnormalities present among the different types of congenital adrenal hyperplasia:
| Common Medical Term | OMIM Number | Enzyme | Gene location | Substrates | Products |
|---|---|---|---|---|---|
|
|
|
| ||
|
lipoid CAH |
|
|
|
| |
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| ||
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|
Pathophysiology
Causes
Differentiating Congenital adrenal hyperplasia from Other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications, and Prognosis
Diagnosis
Diagnostic Criteria
History and Symptoms
Physical Examination
Laboratory Findings
Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Prevention
Reference
- ↑ David A. Warrell (2005). Oxford textbook of medicine: Sections 18-33. Oxford University Press. pp. 261–. ISBN 978-0-19-856978-7. Retrieved 14 June 2010.
- ↑ Aubrey Milunsky; Jeff Milunsky (29 January 2010). Genetic Disorders and the Fetus: Diagnosis, Prevention and Treatment. John Wiley and Sons. pp. 600–. ISBN 978-1-4051-9087-9. Retrieved 14 June 2010.