Ambiguous genitalia, impaired steroidogenesis, and Antley-Bixler syndrome in a patient with P450 oxidoreductase deficiency.

[aromatase deficiency]

Cytochrome P 450 oxidoreductase deficiency is a recently established autosomal recessive disease characterised by ambiguous genitalia , impaired steroidogenesis , and skeletal malformations , referred to as Antley-Bixler syndrome . Clinical manifestations in affected patients are highly variable . We report on a girl with P 450 oxidoreductase deficiency who presented with virilisation at birth . There was transient maternal virilisation during pregnancy as well . She was initially diagnosed with congenital adrenal hyperplasia caused by 21 -hydroxylase deficiency and /or aromatase deficiency . At 1 year of age , skeletal abnormalities suggestive of Antley-Bixler syndrome were detected . Molecular analysis of the fibroblast growth factor receptor 2 (FGFR 2 ) gene was normal but POR gene analysis showed that she was homozygous for an R 457 H missense mutation . The diagnosis , P 450 oxidoreductase deficiency , was confirmed . Results of her endocrine studies and urinary steroid profiling are also presented .