Aromatase deficiency: a novel compound heterozygous mutation identified in a Chinese girl with severe phenotype and obvious maternal virilization.

•This study identified a novel compound heterozygous mutation of CYP19A1 in a 46, XX Chinese girl.•This patient present with ambiguous genitalia, characterized by severe androgenization of the mother during pregnancy.•Structural and functional evidence demonstrated that these novel mutations caused nearly inactivity of the aromatase enzyme.•Maternal virilization should prompt consideration of aromatase deficiency in 46, XX disorder of sexual development newborns.