Congenital Lipoid Adrenal Hyperplasia

Common Name(s)

Congenital Lipoid Adrenal Hyperplasia

Description for this condition is not yet available.
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Congenital Lipoid Adrenal Hyperplasia" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Congenital Lipoid Adrenal Hyperplasia" returned 15 free, full-text research articles on human participants. First 3 results:

Phenotypic variability in congenital lipoid adrenal hyperplasia.
 

Author(s): Rajesh Joshi, Dhanjit Das, Parag Tamhankar, Shakil Shaikh

Journal: Indian Pediatr. 2014 May;51(5):399-400.

 

Congenital lipoid adrenal hyperplasia presents with adrenal insufficiency and sex reversal in 46XY genetic males.

Last Updated: 23 Jun 2014

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[Novel heterozygous mutation in the steroidogenic acute regulatory protein gene in a 46,XY patient with congenital lipoid adrenal hyperplasia].
 

Author(s): María Sonia Baquedano, Gabriela Guercio, Roxana Marino, Esperanza Berensztein, Mariana Costanzo, Pablo Ramírez, Marcela Bailez, Elisa Vaiani, Mercedes Maceiras, Marco A Rivarola, Alicia Belgorosky

Journal: Medicina (B Aires). 2013 ;73(4):297-302.

 

StAR facilitates cholesterol entry into the mitochondria as part of the transduceosome complex. Recessive mutations in the gen STAR cause classic and nonclassic congenital lipoid adrenal hyperplasia. The aim of the study was to analyze the molecular consequences of a novel heterozygous ...

Last Updated: 8 Aug 2013

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Identification of novel mutations in STAR gene in patients with lipoid congenital adrenal hyperplasia: a first report from India.
 

Author(s): Lakshmi Vasudevan, Rajesh Joshi, Dhanjit Kumar Das, Sudha Rao, Daksha Sanghavi, Shiny Babu, Parag M Tamhankar

Journal: J Clin Res Pediatr Endocrinol. 2013 ;5(2):121-4.

 

Lipoid congenital adrenal hyperplasia (LCAH), a rare disorder of steroid biosynthesis, is the most severe form of CAH. We report novel molecular findings of three unrelated infants with LCAH diagnosed at our center. A known missense mutation c.653C>T (p.A218V) and two novel mutations ...

Last Updated: 10 Jun 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Congenital Lipoid Adrenal Hyperplasia" returned 1 free, full-text review articles on human participants. First 3 results:

Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein.
 

Author(s): W L Miller

Journal: J. Mol. Endocrinol.. 1997 Dec;19(3):227-40.

 

Last Updated: 26 Mar 1998

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Symptoms, Diagnosis, and Treatment

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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.