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Article

Spectrum of mutations of the AAAS gene in Allgrove syndrome: lack of mutations in six kindreds with isolated resistance to corticotropin.

The Journal of clinical endocrinology and metabolism - 1 Nov 2001

Sandrini F, Farmakidis C, Kirschner L S, Wu S M, Tullio-Pelet A, Lyonnet S, Metzger D L, Bourdony C J, Tiosano D, Chan W Y, Stratakis C A

Abstract excerpt

Familial glucocorticoid deficiency due to corticotropin (ACTH) resistance consists of two distinct genetic syndromes that are both inherited as autosomal recessive traits: isolated ACTH resistance (iACTHR), which may be caused by inactivating mutations of the ACTH receptor (the MC2R gene) or mutations in an as yet unknown gene(s), and Allgrove syndrome (AS). The latter is also known as triple-A syndrome (MIM...

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PMID: 11701718
DOI: 10.1210/jcem.86.11.8037

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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