The urine steroid metabolome in PORD shows characteristically increased Preg and Prog metabolites (PD and 5PD; Fig. 2C, Table 1), which together with the increased metabolites attributed to partial CYP21A2 and CYP17A1 deficiencies establishes the diagnosis (14, 16, 23, 27) (Table 2). The gene discussed is CYP21A2; the disease is congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency.