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Article

The molecular pathogenesis of ACTH insensitivity syndromes.

Annales d'endocrinologie - 1 Apr 2001

Clark A J, Metherell L, Swords F M, Elias L L

Abstract excerpt

ACTH insensitivity results from a group of rare autosomal recessive genetic defects. Familial glucocorticoid deficiency is one of these syndromes in which about half of all cases have inactivating mutations of the ACTH receptor. The remaining patients with this syndrome have defects in one or more other as yet unidentified genes that are unlinked to the ACTH receptor. The triple A syndrome is a distinct clinical...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 11353896

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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