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Article

A novel TBX19 gene mutation in patients with isolated ACTH deficiency from distinct families with a common geographical origin.

Frontiers in endocrinology - 1 Jan 2022

Charnay Théo, Mougel Gregory, Amouroux Cyril, Gueorguieva Iva, Joubert Florence, Pertuit Morgane, Reynaud Rachel, Barlier Anne, Brue Thierry, Saveanu Alexandru

Abstract excerpt

Isolated ACTH deficiency (IAD) is a life-threatening condition, particularly in the neonatal period, while a main consequence of undiagnosed isolated ACTH deficiency in survivors is cognitive impairment. TBX19 is involved in the differentiation and proliferation of corticotropic cells and TBX19 mutations are responsible for more than 60% of neonatal cases of IAD. We describe a new variant of the main TBX19...

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Identifiers

PMID: 36890856
DOI: 10.3389/fendo.2022.1080649
PMCID: PMC9987334

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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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