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Journal article

Nonclassic lipoid congenital adrenal hyperplasia masquerading as familial glucocorticoid deficiency.

Abstract:

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 of the ACTH receptor (MC2R) and the melanocortin 2 receptor accessory protein (MRAP), FGD types 1 and 2 respectively, account for approximately 45% of cases. OBJECTIVE: A locus on chromosome 8 has...

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Publication status:
Published

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Publisher copy:
10.1210/jc.2009-0467

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Journal:
The Journal of clinical endocrinology and metabolism
Volume:
94
Issue:
10
Pages:
3865-3871
Publication date:
2009-10-05
DOI:
EISSN:
1945-7197
ISSN:
0021-972X
URN:
uuid:115f3271-a6fd-4509-b2d3-18e882a26082
Source identifiers:
482129
Local pid:
pubs:482129

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