Article
Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.
The Journal of clinical endocrinology and metabolism - 1 Oct 2009
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
Abstract excerpt
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. Mutati...
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