The discordant presentations of the same mutation demonstrated that phenotypic expression in PORD was multifactorial and may be influenced by other genetic, epigenetic, or environmental factors, such as the regulation of Drosophila mothers against decapentaplegic protein (Smad3/4), thyroid receptors, and transcription factor activating protein 2 (AP-2) in human POR transcription (3, 69). Here, POR is linked to congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency.