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Article

Phenotypic homogeneity and genotypic variability in a large series of congenital isolated ACTH-deficiency patients with TPIT gene mutations.

The Journal of clinical endocrinology and metabolism - 1 Mar 2012

Couture C, Saveanu A, Barlier A, Carel J C, Fassnacht M, Flück C E, Houang M, Maes M, Phan-Hug F, Enjalbert A, Drouin J, Brue T, Vallette S

Abstract excerpt

CONTEXT: Congenital isolated ACTH deficiency (IAD) is a rare disease characterized by low plasma ACTH and cortisol levels and preservation of all other pituitary hormones. This condition was poorly defined before we identified TPIT, a T-box transcription factor with a specific role in differentiation of the corticotroph lineage in mice and humans, as its principal molecular cause. OBJECTIVE: We have enlarged our...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22170728
DOI: 10.1210/jc.2011-1659

Provenance

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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