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

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

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 muta...

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Bibliographic Details
Main Authors: Théo Charnay, Gregory Mougel, Cyril Amouroux, Iva Gueorguieva, Florence Joubert, Morgane Pertuit, Rachel Reynaud, Anne Barlier, Thierry Brue, Alexandru Saveanu
Format: Article
Language:English
Published: Frontiers Media S.A. 2023-02-01
Series:Frontiers in Endocrinology
Subjects:
isolated ACTH deficiency
low ACTH and cortisol
adrenal insufficiency
TBX19
TPIT
recessive disorder
Online Access:https://www.frontiersin.org/articles/10.3389/fendo.2022.1080649/full

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https://www.frontiersin.org/articles/10.3389/fendo.2022.1080649/full

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