Characterization of a novel CYP19A1 (aromatase) R192H mutation causing virilization of a 46,XX newborn, undervirilization of the 46,XY brother, but no virilization of the mother during pregnancies.

Highlights: [•] Novel CYP19A1 mutation R192H causes 80% reduction in enzyme activity. [•] The R192H mutation in CYP19A1 caused 46,XX disorder of sex development. [•] There was no maternal virilization during pregnancy. [•] Healthy 46,XY brother with R192H had hypospadias and cryptorchidism. [•] Computational structure analysis shows R192H disrupts substrate access and binding. [ABSTRACT FROM AUTHOR]