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Article

A novel mutation in the MC2R gene causing familial glucocorticoid deficiency type 1.

Neonatology - 1 Jan 2011

Akin Mustafa Ali, Akin Leyla, Coban Dilek, Ozturk M Adnan, Bircan Rifat, Kurtoglu Selim

Abstract excerpt

Familial glucocorticoid deficiency (FGD) or hereditary unresponsiveness to adrenocorticotropin (ACTH) is an autosomal recessive disorder characterized by isolated glucocorticoid deficiency associated with normal mineralocorticoid secretion. Mutations in genes encoding either ACTH receptor or melanocortin 2 receptor accessory protein are responsible for the disease in about 50% of cases, named FGD type 1 and type...

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PMID: 21701219
DOI: 10.1159/000323913

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