|
|
| Line 1: |
Line 1: |
| __NOTOC__
| |
| {{SI}}
| |
| {{CMG}}; {{AE}} {{CZ}}; {{Ammu}}
| |
|
| |
|
| {{SK}} CAH; Adrenogenital syndrome
| |
|
| |
| ==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
| |
| 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:
| |
| <br>
| |
| [[Image:DHEA1_svg.png|thumb|center|800px|Production of DHEA from Cholesterol. ([[Cortisol]] is a [[glucocorticoid]].)]]
| |
|
| |
| ==Historical Perspective==
| |
|
| |
| ==Classification==
| |
| * Congenital adrenal hyperplasia may be classified according to biochemical enzyme deficiency into commonly the following types:
| |
| <br>
| |
| {{Familytree/start}}
| |
| {{Familytree|boxstyle=background: #E0FFFF;| | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | | | |A01=<div style="width: 20em; padding:0.5em;">'''Congenital Adrenal Hyperplasia'''</div>}}
| |
| {{Familytree|boxstyle=background: #E0FFFF;| | | | |,|-|-|-|-|v|-|-|-|-|+|-|-|-|-|v|-|-|-|-|.| | | | | | | | | | | | | |}}
| |
| {{Familytree|boxstyle=background: #E0FFFF;| | | | B01 | | | B02 | | | B03 | | | B04 | | | B05 | | | | | | | | | | | |B01= <div style="width: 15em; padding:0.5em;">[[Lipoid congenital adrenal hyperplasia]]</div>|B02= <div style="width: 15em; padding:0.5em;">[[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency]]</div>|B03= <div style="width: 15em; padding:0.5em;"> [[Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency]]</div>|B04= <div style="width: 15em; padding:0.5em;"> [[Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency]] </div>|B05= <div style="width: 15em; padding:0.5em;"> [[Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency]] </div>}}
| |
| {{Familytree/end}}
| |
| <br>
| |
| ===Biochemistry===
| |
| * The table below lists the specific biochemical abnormalities present among the different types of congenital adrenal hyperplasia:
| |
| <br>
| |
| {| style="border: 0px; font-size: 90%; margin: 3px; width: 1000px"
| |
| |valign=top|
| |
| |+
| |
| ! style="background: #4479BA; width: 200px; color: #FFFFFF;"|'''Common Medical Term'''
| |
|
| |
| ! style="background: #4479BA; width: 600px; color: #FFFFFF;"|'''OMIM Number'''
| |
|
| |
| ! style="background: #4479BA; width: 200px; color: #FFFFFF;"|'''Enzyme'''
| |
|
| |
| ! style="background: #4479BA; width: 200px; color: #FFFFFF;"|'''Gene location'''
| |
|
| |
| ! style="background: #4479BA; width: 600px; color: #FFFFFF;"|'''Substrates'''
| |
|
| |
| ! style="background: #4479BA; width: 600px; color: #FFFFFF;"|'''Products'''
| |
|
| |
| |-
| |
|
| |
| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align=center |
| |
| ''' [[Congenital adrenal hyperplasia due to 21-hydroxylase deficiency|21-hydroxylase CAH]]'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :{{OMIM|201910}}
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :P450c21
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :6p21.3
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :17OH-progesterone→ <br/>[[Progesterone]]
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :11-deoxycortisol→<br/>[[11-deoxycorticosterone|DOC]]
| |
|
| |
| |-
| |
|
| |
| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align=center |
| |
| ''' [[Lipoid congenital adrenal hyperplasia|lipoid CAH]]<br/>(20,22-desmolase)'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :{{OMIM|201710}}
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :StAR<br/>P450scc
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :8p11.2<br/>15q23-q24
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :Transport of [[cholesterol]]→<br/>[[cholesterol]]
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :Into mitochondria→<br/>[[Pregnenolone]]
| |
| |-
| |
|
| |
| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align=center |
| |
| ''' [[Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency|17α-hydroxylase CAH]]'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :{{OMIM|202110}}
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :P450c17
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :10q24.3
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :[[pregnenolone]]→<br/>[[progesterone]]→<br/>17OH-pregnenolone→
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :17OH-pregnenolone<br/>17OH-progesterone<br/>[[DHEA]]
| |
|
| |
| |-
| |
|
| |
| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align=center |
| |
| '''[[Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency|3β-HSD CAH]]'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :{{OMIM|201810}}
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :3βHSD II
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :1p13
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :[[Pregnenolone]]→<br/>17OH-pregnenolone→<br/>[[DHEA]]→
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :[[Progesterone]]<br/>17OH-progesterone<br/>[[androstenedione]]
| |
|
| |
| |-
| |
|
| |
| | style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align=center |
| |
| '''[[Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency|11β-hydroxylase CAH]]'''
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :{{OMIM|202010}}
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :P450c11β
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :8q21-22
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :11-deoxycortisol→<br/>DOC→
| |
| | style="padding: 5px 5px; background: #F5F5F5;"|
| |
| :[[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==
| |
| {{Reflist|2}}
| |
|
| |
| [[Category:Endocrinology]]
| |
|
| |
| {{WS}}
| |
| {{WH}}
| |