Article
A Novel POR G88S Mutation Causes Severe PORD and Establishes a Critical Pharmacogenomic Risk Profile.
The Journal of clinical endocrinology and metabolism - 22 Apr 2026
Rojas Velazquez Maria Natalia, Lopez Dacal Jimena, Jørgensen Flemming Steen, Sanguineti Nora, Sharma Katyayani, Marino Roxana, Pérez Garrido Natalia, Vaiani Elisa, Ramírez Pablo, Scaglia Paula, Izquierdo Agustín, Sansó Gabriela, Ropelato María Gabriela, Bergadá Ignacio, Rey Rodolfo A, Grinspon Romina P, Pandey Amit V
Abstract excerpt
CONTEXT: P450 oxidoreductase (POR) deficiency is a rare congenital adrenal hyperplasia with variable severity. The mechanisms of severe mutations and their full metabolic consequences, including drug metabolism, are not fully characterized. OBJECTIVE: To define the clinical, biochemical, and molecular consequences of a novel homozygous POR missense mutation, p.Gly88Ser (G88S), identified in 4 unrelated Argentine...
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