" /> Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency - CISMeF





Preferred Label : Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency;

NCIt synonyms : Disordered Steroidogenesis due to Cytochrome P450 Oxidoreductase Deficiency;

NCIt definition : A genetic condition caused by mutation(s) in the POR gene, encoding NADPH--cytochrome P450 reductase. It is characterized by glucocorticoid deficiency, sexual ambiguity in both boys and girls, and skeletal malformations.;

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28/07/2025


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