hrp0098fc8.3 | Adrenals and HPA Axis 2 | ESPE2024

Insight into the role of TXNRD2 in steroidogenesis through a novel homozygous TXNRD2 splice variant

Brachet Cecile , Laemmle Alexander , Cools Martine , Sauter Kay-Sara , De Baere Elfride , Vanlander Arnaud , V. Pandey Amit , du Toit Therina , D. Voegel Clarissa , Heinrichs Claudine , Verdin Hannah , E. Flück Christa

Objective: Adrenal cortisol production occurs through a biosynthetic pathway which depends on NADH and NADPH for energy supply. The mitochondrial respiratory chain and the reactive oxygen species (ROS) detoxification system are therefore important for steroidogenesis. Mitochondrial dysfunction leading to oxidative stress has been implicated in the pathogenesis of several adrenal conditions. Nonetheless, only very few patients with variants in one gene of the R...