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{{Lipoid congential adrenal hyperplasia}}
{{SI}}                                                                  
{{CMG}}
{{CMG}}; {{AE}} {{MJ}}


==[[Lipoid congenital adrenal hyperplasia overview|Overview]]==
{{SK}} Congenital lipoid adrenal hyperplasia


==[[Lipoid congenital adrenal hyperplasia historical perspective|Historical Perspective]]==
==Overview==
Lipoid congenital adrenal hyperplasia is a rare and usually the most severe form of [[congenital adrenal hyperplasia]].


==[[Lipoid congenital adrenal hyperplasia classification|Classification]]==
==Historical Perspective==


==Classification==


==[[Lipoid congenital adrenal hyperplasia pathophysiology|Pathophysiology]]==
==Pathophysiology==
Lipoid congenital adrenal hyperplasia is an autosomal recessive disease; characterized by deficiency of all adrenal hormones and increased corticotropin (ACTH) secretion.
* This disease is caused by gene mutations on chromosome 8. This gene mutation codes for a protein called steroid acute regulatory protein (StAR). StAR helps cholesterol transport from the outer to the inner mitochondrial membrane. 
On microscopic histopathological analysis, progressive accumulation of cholesterol esters are characteristic findings of Lipoid congenital adrenal hyperplasia.


==[[Lipoid congenital adrenal hyperplasia causes|Causes]]==
==Causes==


==[[Lipoid congenital adrenal hyperplasia differential diagnosis|Differentiating Lipoid CAH from other Diseases]]==
==Differentiating [disease name] from other Diseases==
==Epidemiology and Demographics==


==[[Lipoid congenital adrenal hyperplasia epidemiology and demographics|Epidemiology and Demographics]]==


==[[Lipoid congenital adrenal hyperplasia risk factors|Risk Factors]]==
== Diagnosis ==


==[[Lipoid congenital adrenal hyperplasia natural history, complications and prognosis|Natural History, Complications and Prognosis]]==
=== Symptoms ===
Symptoms can be sever hypotension due to adrenal crisis. Because lack of androgen production male infants usually have female external genitalia. Female infants have normal genitalia normally developed at birth and occasional patients undergo spontaneous puberty


==[[Lipoid congenital adrenal hyperplasia diagnosis|Diagnosis]]==
=== Physical Examination ===
[[Lipoid congenital adrenal hyperplasia history and symptoms|History and Symptoms]] | [[Lipoid congenital adrenal hyperplasia physical examination|Physical Examination]] | [[Lipoid congenital adrenal hyperplasia laboratory findings|Laboratory Findings]] |
=== Laboratory Findings ===
[[Lipoid congenital adrenal hyperplasia electrocardiogram|Electrocardiogram]] | [[Lipoid congenital adrenal hyperplasia CT|CT]] | [[Lipoid congenital adrenal hyperplasia MRI|MRI]] | [[Lipoid congenital adrenal hyperplasia echocardiography or ultrasound|Ultrasound]] | [[Lipoid congenital adrenal hyperplasia other imaging findings|Other Imaging Findings]] | [[Lipoid congenital adrenal hyperplasia other diagnostic studies|Other Diagnostic Studies]]
===Imaging Findings===
 
== Treatment ==
==Treatment==
=== Medical Therapy ===
[[Lipoid congenital adrenal hyperplasia medical therapy|Medical Therapy]] | [[Lipoid congenital adrenal hyperplasia surgery|Surgery]] | [[Lipoid congenital adrenal hyperplasia primary prevention|Primary Prevention]] | [[Lipoid congenital adrenal hyperplasia secondary prevention|Secondary Prevention]] | [[Lipoid congenital adrenal hyperplasia cost-effectiveness of therapy|Cost-Effectiveness of Therapy]] | [[Lipoid congenital adrenal hyperplasia future or investigational therapies|Future or Investigational Therapies]]
=== Surgery ===
==Case Studies==
:[[Lipoid congenital adrenal hyperplasia case study one|Case #1]]
 
==Related Chapters==
*[[Congenital adrenal hyperplasia]] for an overview of CAH
*[[Congenital adrenal hyperplasia due to 17 alpha-hydroxylase deficiency|Congenital adrenal hyperplasia due to 17α-hydroxylase deficiency]]
*[[Congenital adrenal hyperplasia due to 3 beta-hydroxysteroid dehydrogenase deficiency|Congenital adrenal hyperplasia due to 3β-hydroxysteroid dehydrogenase deficiency]]
*[[Congenital adrenal hyperplasia due to 11 beta-hydroxylase deficiency|Congenital adrenal hyperplasia due to 11β-hydroxylase deficiency]]
*[[Intersex]] and [[ambiguous genitalia]]
*[[Adrenal insufficiency]]
 
[[Category:Pediatrics]]
[[Category:Endocrinology]]
[[Category:Genetic disorders]]
[[Category:Intersexuality]]
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Revision as of 16:06, 10 August 2017

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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 lipoid adrenal hyperplasia

Overview

Lipoid congenital adrenal hyperplasia is a rare and usually the most severe form of congenital adrenal hyperplasia.

Historical Perspective

Classification

Pathophysiology

Lipoid congenital adrenal hyperplasia is an autosomal recessive disease; characterized by deficiency of all adrenal hormones and increased corticotropin (ACTH) secretion.

  • This disease is caused by gene mutations on chromosome 8. This gene mutation codes for a protein called steroid acute regulatory protein (StAR). StAR helps cholesterol transport from the outer to the inner mitochondrial membrane.

On microscopic histopathological analysis, progressive accumulation of cholesterol esters are characteristic findings of Lipoid congenital adrenal hyperplasia.

Causes

Differentiating [disease name] from other Diseases

Epidemiology and Demographics

Diagnosis

Symptoms

Symptoms can be sever hypotension due to adrenal crisis. Because lack of androgen production male infants usually have female external genitalia. Female infants have normal genitalia normally developed at birth and occasional patients undergo spontaneous puberty

Physical Examination

Laboratory Findings

Imaging Findings

Treatment

Medical Therapy

Surgery