Cytochrome P450 oxidoreductase deficiency (PORD) is a rare type of congenital adrenal hyperplasia (CAH) inherited in an autosomal recessive manner caused by cytochrome P450 oxidoreductase (POR) mutations, which results in multiple hormonal imbalances with phenotypic diversity (1–5). The gene discussed is POR; the disease is congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency.