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Article

Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families.

The Journal of clinical endocrinology and metabolism - 1 Jan 1995

Weber A, Toppari J, Harvey R D, Klann R C, Shaw N J, Ricker A T, Näntö-Salonen K, Bevan J S, Clark A J

Abstract excerpt

Familial glucocorticoid deficiency is an autosomal recessive syndrome of adrenal unresponsiveness to ACTH characterized by glucocorticoid deficiency, high plasma ACTH levels, and a normal renin-aldosterone axis. Defects of the ACTH receptor have been suggested as a possible cause, and we have previously reported a number of novel mutations of the ACTH receptor gene in some, but not all, cases, suggesting that...

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Identifiers

PMID: 7829641
DOI: 10.1210/jcem.80.1.7829641

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CRH

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Adrenocorticotropin receptor gene mutations in familial glucocorticoid deficiency: relationships with clinical features in four families.PMID 7829641Read ↗

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Clinical, genetic, and functional characterization of adrenocorticotropin receptor mutations using a novel receptor assay.Semantic proximity Read ↗

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

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