Nonclassic Lipoid Congenital Adrenal Hyperplasia Masquerading as Familial Glucocorticoid Deficiency

Context: Familial glucocorticoid deficiency (FGD) is an autosomal recessive disorder resulting from resistance to the action of ACTH on the adrenal cortex. Affected individuals are deficient in cortisol and, if untreated, are likely to succumb to hypoglycemia and/or overwhelming infection. Mutations...

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Autori principali: Metherell, Louise A., Naville, Danielle, Halaby, George, Begeot, Martine, Huebner, Angela, Nürnberg, Gudrun, Nürnberg, Peter, Green, Jane, Tomlinson, Jeremy W., Krone, Nils P., Lin, Lin, Racine, Michael, Berney, Dan M., Achermann, John C., Arlt, Wiebke, Clark, Adrian J. L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: The Endocrine Society 2009
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Original Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2860769/
https://ncbi.nlm.nih.gov/pubmed/19773404
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2009-0467
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