Article
Molecular Basis of CYP19A1 Deficiency in a 46,XX Patient With R550W Mutation in POR: Expanding the PORD Phenotype.
The Journal of clinical endocrinology and metabolism - 1 Apr 2020
Parween Shaheena, Fernández-Cancio Mónica, Benito-Sanz Sara, Camats Núria, Rojas Velazquez Maria Natalia, López-Siguero Juan-Pedro, Udhane Sameer S, Kagawa Norio, Flück Christa E, Audí Laura, Pandey Amit V
Abstract excerpt
CONTEXT: Mutations in cytochrome P450 oxidoreductase (POR) cause a form of congenital adrenal hyperplasia (CAH). We report a novel R550W mutation in POR identified in a 46,XX patient with signs of aromatase deficiency. OBJECTIVE: Analysis of aromatase deficiency from the R550W mutation in POR. DESIGN, SETTING, AND PATIENT: Both the child and the mother had signs of virilization. Ultrasound revealed the presence...
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