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Article

Isolated glucocorticoid deficiency and ACTH receptor mutations.

Archives of medical research - 1 Jan 2000

Tsigos C

Abstract excerpt

Familial isolated glucocorticoid deficiency is a form of potentially lethal hereditary unresponsiveness to ACTH that manifests as primary adrenal insufficiency, usually without mineralocorticoid deficiency. Affected children commonly present with hyperpigmentation, recurrent hypoglycemia, chronic asthenia and failure to thrive within the first 2 years of life. Typically, they have deficient production of cortisol...

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Identifiers

PMID: 10714360
DOI: 10.1016/s0188-0128(99)00057-3

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Isolated glucocorticoid deficiency and ACTH receptor mutations.PMID 10714360Read ↗

Hereditary isolated glucocorticoid deficiency is associated with abnormalities of the adrenocorticotropin receptor gene.Semantic proximity Read ↗

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Familial glucocorticoid deficiency: advances in the molecular understanding of ACTH action.Semantic proximity Read ↗

The molecular pathogenesis of ACTH insensitivity syndromes.Semantic proximity Read ↗

[ACTH receptor, ACTH receptor anomaly, and familial glucocorticoid deficiency].Semantic proximity Read ↗

Mutations in MRAP, encoding a new interacting partner of the ACTH receptor, cause familial glucocorticoid deficiency type 2.Semantic proximity Read ↗

Isolated Addison's disease is unlikely to be caused by mutations in MC2R, MRAP or STAR, three genes responsible for familial glucocorticoid deficiency.Semantic proximity Read ↗

A novel adrenocorticotropin receptor mutation alters its structure and function, causing familial glucocorticoid deficiency.Semantic proximity Read ↗

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