Congenital Adrenal Hyperplasia due to Cytochrome P450 Oxidoreductase Deficiency

**Semantic type:** Disease or Syndrome

**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.

**Synonyms:** - Disordered Steroidogenesis due to Cytochrome P450 Oxidoreductase Deficiency