Sandbox:Mehrian: Difference between revisions

Revision as of 14:36, 12 July 2017

Phenotype: Classic salt wasting Classic simple virilizing Nonclassic ♂ ♀ ♂ ♀ ♂ ♀ Age at diagnosis Newborn-6m Newborn-1m 2–4 y Newborn-2 y Child-adult Child-adult Genitalia Normal Ambiguous Normal Ambiguous Normal +/− ↑ clitoris Aldosterone ↓ Normal Normal Renin ↑ May be ↑ Normal Cortisol ↓ ↓ Normal 17-OH-progesterone >20,000 ng/dl >10,000–20,000 ng/dl 1,500–10,000 ng/dl (ACTH-stimulated) Testosterone ↑ In pre-puberty only ↑ ↑ In pre-puberty only ↑ Variably ↑ in pre-puberty only Variably ↑ Treatment Glucocorticoid+ mineralocorticoid (+ sodium) Glucocorticoid (+ mineralocorticoid) Glucocorticoid, if symptomatic Somatic growtha -2-3 sd, husky-obese -1-2 sd ?-1 sd Incidenceb 1/20,000 1/60,000 1/1000 Typical mutationsc Deletion I172N V281L Large conversion nt 656g P30L nt 656g (“intron 2 g”) G110Δ8nt I236N/V237E/M239K Q318X R356W % Enzymatic activityd 0 1 20–50

@@ Line 1: / Line 1: @@
-__NOTOC__
+Phenotype:
-{{SI}}
+Classic salt wasting
-{{CMG}}; {{AE}} {{CZ}}; {{Ammu}}
+Classic simple virilizing
-{{SK}} CAH; Adrenogenital syndrome
+Nonclassic
-==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==
+Age at diagnosis
+Newborn-6m
-==Classification==
+Newborn-1m
-* Congenital adrenal hyperplasia may be classified according to biochemical enzyme deficiency into commonly the following types:
+–4 y
-<br>
+Newborn-2 y
-{{Familytree/start}}
+Child-adult
-{{Familytree|boxstyle=background: #E0FFFF;| | | | | | | | | | | | | | A01 | | | | | | | | | | | | | | | | | | |A01=<div style="width: 20em; padding:0.5em;">'''Congenital Adrenal Hyperplasia'''</div>}}
+Child-adult
-{{Familytree|boxstyle=background: #E0FFFF;| | | | |,|-|-|-|-|v|-|-|-|-|+|-|-|-|-|v|-|-|-|-|.| | | | | | | | | | | | | |}}
+Genitalia
-{{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>}}
+Normal
-{{Familytree/end}}
+Ambiguous
-<br>
+Normal
-===Biochemistry===
+Ambiguous
-* The table below lists the specific biochemical abnormalities present among the different types of congenital adrenal hyperplasia:
+Normal
-<br>
++/− ↑ clitoris
-{| style="border: 0px; font-size: 90%; margin: 3px; width: 1000px"
+Aldosterone
-|valign=top|
+↓
-|+
-! style="background: #4479BA; width: 200px; color: #FFFFFF;"|'''Common Medical Term'''
+Normal
-! style="background: #4479BA; width: 600px; color: #FFFFFF;"|'''OMIM Number'''
+Normal
-! style="background: #4479BA; width: 200px; color: #FFFFFF;"|'''Enzyme'''
+Renin
+↑
-! style="background: #4479BA; width: 200px; color: #FFFFFF;"|'''Gene location'''
+May be ↑
-! style="background: #4479BA; width: 600px; color: #FFFFFF;"|'''Substrates'''
+Normal
-! style="background: #4479BA; width: 600px; color: #FFFFFF;"|'''Products'''
+Cortisol
-|-
+↓
-| 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;"|
+Normal
-:{{OMIM|201910}}
-| style="padding: 5px 5px; background: #F5F5F5;"|
+-OH-progesterone
-:P450c21
+>20,000 ng/dl
-| style="padding: 5px 5px; background: #F5F5F5;"|
-:6p21.3
+>10,000–20,000 ng/dl
-| style="padding: 5px 5px; background: #F5F5F5;"|
-:17OH-progesterone→ <br/>[[Progesterone]]
+,500–10,000 ng/dl (ACTH-stimulated)
-| style="padding: 5px 5px; background: #F5F5F5;"|
-:11-deoxycortisol→<br/>[[11-deoxycorticosterone|DOC]]
+Testosterone
+↑ In pre-puberty only
-|-
+↑
+↑ In pre-puberty only
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align=center |
+↑
-''' [[Lipoid congenital adrenal hyperplasia|lipoid CAH]]<br/>(20,22-desmolase)'''
+Variably ↑ in pre-puberty only
-| style="padding: 5px 5px; background: #F5F5F5;"|
+Variably ↑
-:{{OMIM|201710}}
+Treatment
-| style="padding: 5px 5px; background: #F5F5F5;"|
+Glucocorticoid+ mineralocorticoid (+ sodium)
-:StAR<br/>P450scc
-| style="padding: 5px 5px; background: #F5F5F5;"|
+Glucocorticoid (+ mineralocorticoid)
-:8p11.2<br/>15q23-q24
-| style="padding: 5px 5px; background: #F5F5F5;"|
+Glucocorticoid, if symptomatic
-:Transport of [[cholesterol]]→<br/>[[cholesterol]]
-| style="padding: 5px 5px; background: #F5F5F5;"|
+Somatic growtha
-:Into mitochondria→<br/>[[Pregnenolone]]
+-2-3 sd, husky-obese
-|-
+-1-2 sd
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align=center |
-'''  [[Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency|17α-hydroxylase CAH]]'''
+?-1 sd
-| style="padding: 5px 5px; background: #F5F5F5;"|
-:{{OMIM|202110}}
+Incidenceb
-| style="padding: 5px 5px; background: #F5F5F5;"|
+/20,000
-:P450c17
-| style="padding: 5px 5px; background: #F5F5F5;"|
+/60,000
-:10q24.3
-| style="padding: 5px 5px; background: #F5F5F5;"|
+/1000
-:[[pregnenolone]]→<br/>[[progesterone]]→<br/>17OH-pregnenolone→
-| style="padding: 5px 5px; background: #F5F5F5;"|
+Typical mutationsc
-:17OH-pregnenolone<br/>17OH-progesterone<br/>[[DHEA]]
+Deletion
-|-
+I172N
-| style="padding: 5px 5px; background: #DCDCDC; font-weight: bold" align=center |
+V281L
-'''[[Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency|3β-HSD CAH]]'''
-| style="padding: 5px 5px; background: #F5F5F5;"|
-:{{OMIM|201810}}
+Large conversion
-| style="padding: 5px 5px; background: #F5F5F5;"|
-:3βHSD II
+nt 656g
-| style="padding: 5px 5px; background: #F5F5F5;"|
-:1p13
+P30L
-| style="padding: 5px 5px; background: #F5F5F5;"|
-:[[Pregnenolone]]→<br/>17OH-pregnenolone→<br/>[[DHEA]]→
-| style="padding: 5px 5px; background: #F5F5F5;"|
+nt 656g (“intron 2 g”)
-:[[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;"|
+G110Δ8nt
-:{{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→
+I236N/V237E/M239K
-| style="padding: 5px 5px; background: #F5F5F5;"|
-:[[Cortisol]]<br/>[[Corticosterone]]
-|}
-==Pathophysiology==
-==Causes==
+Q318X
-==Differentiating {{PAGENAME}} from Other Diseases==
-==Epidemiology and Demographics==
-==Risk Factors==
+R356W
-==Screening==
-==Natural History, Complications, and Prognosis==
-==Diagnosis==
-===Diagnostic Criteria===
+% Enzymatic activityd
-===History and Symptoms===
-===Physical Examination===
+–50
-===Laboratory Findings===
-===Imaging Findings===
-===Other Diagnostic Studies===
-==Treatment==
-===Medical Therapy===
-===Surgery===
-===Prevention===
-==Reference==
-{{Reflist|2}}
-[[Category:Endocrinology]]
-{{WS}}
-{{WH}}

Sandbox:Mehrian: Difference between revisions

Revision as of 14:36, 12 July 2017

Navigation menu

Search