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News about the genetics of congenital primary adrenal insufficiency.

Annales d'endocrinologie - 1 Jun 2018

Roucher-Boulez Florence, Mallet-Motak Delphine, Tardy-Guidollet Véronique, Menassa Rita, Goursaud Claire, Plotton Ingrid, Morel Yves

Abstract excerpt

Primary adrenal insufficiency (PAI) is characterized by impaired production of steroid hormones due to an adrenal cortex defect. This condition incurs a risk of acute insufficiency which may be life-threatening. Today, 80% of pediatric forms of PAI have a genetic origin but 5% have no clear genetic support. Recently discovered mutations in genes relating to oxidative stress have opened the way to research on...

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PMID: 29661472
DOI: 10.1016/j.ando.2018.03.016

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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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