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 18 free, full-text research articles on human participants. First 3 results:

Lipoid congenital adrenal hyperplasia by steroidogenic acute regulatory protein (STAR) gene mutation in an Italian infant: an uncommon cause of adrenal insufficiency.
 

Author(s): Carla Bizzarri, Elisa Pisaneschi, Mafalda Mucciolo, Stefania Pedicelli, Daniela Galeazzi, Antonio Novelli, Marco Cappa

Journal:

 

Lipoid congenital adrenal hyperplasia (CAH) (OMIM n. 201710) is the most severe form of congenital adrenal hyperplasia. It is characterized by severe adrenal and gonadal steroidogenesis impairment due to a defect in the conversion of cholesterol to pregnenolone. Affected infants experience ...

Last Updated: 31 Dec 1969

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A case report of pedigree of a homozygous mutation of the steroidogenic acute regulatory protein causing lipoid congenital adrenal hyperplasia.
 

Author(s): Rong Fu, Lin Lu, Jun Jiang, Min Nie, Xiaojing Wang, Zhaolin Lu

Journal: Medicine (Baltimore). 2017 May;96(21):e6994.

 

Lipoid congenital adrenal hyperplasia (LCAH) is extremely rare, but is the most fatal form of congenital adrenal hyperplasia resulting from mutations in the steroidogenic acute regulatory protein (STAR) gene. LCAH arises from severe defects in the conversion of cholesterol to pregnenolone, ...

Last Updated: 31 Dec 1969

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Gonadal macrophage infiltration in congenital lipoid adrenal hyperplasia.
 

Author(s): Tomohiro Ishii, Ryuji Fukuzawa, Takeshi Sato, Koji Muroya, Masanori Adachi, Kenji Ihara, Junko Igaki, Yukihiro Hasegawa, Seiji Sato, Toshikatsu Mitsui, Tomonobu Hasegawa

Journal: Eur. J. Endocrinol.. 2016 Aug;175(2):127-32.

 

Congenital lipoid adrenal hyperplasia (lipoid CAH) results in impairment of adrenal and gonadal steroidogenesis caused by STAR mutations. Our previous study revealed upregulation of genes associated with inflammatory or immune response and macrophage infiltration in the adrenal cortex ...

Last Updated: 31 Dec 1969

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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 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.