Disordered steroidogenesis due to cytochrome P450 oxidoreductase

Definition:

Cytochrome P450 oxidoreductase (POR) deficiency is an autosomal recessive disorder with a broad phenotypic spectrum including skeletal malformations resembling the Antley-Bixler syndrome phenotype and abnormalities in adrenal steroid biosynthesis resulting in congenital adrenal hyperplasia.

References:

[1]. Christa E Flück, et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome. Nat Genet. 2004 Mar;36(3):228-30. [Content Brief]

[2]. Eli Hershkovitz, et al. Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency. J Clin Endocrinol Metab. 2008 Sep;93(9):3584-8. [Content Brief]

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