A novel mutation in the NR3C1 gene associated with reversible glucocorticoid resistance.

Margaux Laulhé Emmanuelle KuhnJérôme BouligandLarbi AmazitJulie PerrotElise LebigotPeter KamenickỷMarc LombèsJérôme FagartSay ViengchareunLaetitia Martinerie

Published in: European journal of endocrinology (2024)

This is the first description of a reversible glucocorticoid resistance syndrome with effective negative feedback on corticotroph cells regarding increased plasma cortisol concentrations due to the development of mild autonomous cortisol secretion.

Keyphrases

induced apoptosis
cell cycle arrest
genome wide
copy number
oxidative stress
signaling pathway
dna methylation
genome wide analysis