We identified a novel POR gene mutation (G88S) causing one of the most severe forms of P450 oxidoreductase deficiency reported. The mutation disrupts steroid and drug metabolism, producing significant endocrine dysfunction and a “poor metabolizer” phenotype. Its recurrence in Argentine families highlights its relevance as a potential target for genetic screening and personalized care.
Cita: Rojas Velazquez MN, Lopez Dacal J, Jørgensen FS, Sanguineti N, Sharma K, Marino R, Pérez Garrido N, Vaiani E, Ramírez P, Scaglia P, Izquierdo A, Sansó G, Ropelato MG, Bergadá I, Rey RA, Grinspon RP, Pandey AV. A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile. J Clin Endocrinol Metab. 2026;111(5):e1302-e1321. doi: 10.1210/clinem/dgaf630.
Instagram: cedie.conicet
Sitio web Facebook: cedie.conicet
LinkedIn: https://www.linkedin.com/company/cedie-conicet
