title: Urinary steroid metabolites in subjects with male pseudohermaphroditism due to 5 alpha-reductase deficiency.
abstract: To investigate the enzymatic basis for abnormal steroid metabolism in subjects with male pseudohermaphroditism due to 5 alpha-reductase deficiency, the ring A reduced urinary 5 beta and 5 alpha metabolites of testosterone, androstenedione, 11 beta-hydroxyandrostenedione, cortisol and corticosterone were measured by gas chromatography. Assays of the four pairs of urinary 5 beta and 5 alpha steroid metabolites revealed decreased conversion of the parent steroids to 5 alpha-reduced urinary metabolites, with increased 5 beta to 5 alpha urinary steroid metabolite ratios. These studies establish that increased urinary 5 beta/5 alpha ratios are distinctive for this disorder, and represent the most reliable method for confirming the diagnosis of primary inherited 5 alpha-reductase deficiency. These data also suggest that the conversion on the many delta 4-3 ketosteroids to 5 alpha-reduced steroids may be due to a single enzyme with broad specificity, or multiple enzyme reductases with a common regulator.
mesh_terms: D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase / Q000172:deficiency*; D000293:Adolescent; D000328:Adult; D000735:Androstenedione / Q000031:analogs & derivatives / Q000652:urine; D002648:Child; D002675:Child, Preschool; D002849:Chromatography, Gas; D003345:Corticosterone / Q000652:urine; D013196:Dihydrotestosterone / Q000097:blood; D012734:Disorders of Sex Development / Q000097:blood / Q000209:etiology / Q000652:urine*; D006801:Humans; D006854:Hydrocortisone / Q000652:urine; D007223:Infant; D008297:Male; D008875:Middle Aged; D010088:Oxidoreductases / Q000172:deficiency*; D013739:Testosterone / Q000097:blood / Q000652:urine
chemical_list: D013196:Dihydrotestosterone; D013739:Testosterone; D000735:Androstenedione; C003582:11-hydroxyandrostenedione; D010088:Oxidoreductases; D013741:3-Oxo-5-alpha-Steroid 4-Dehydrogenase; D003345:Corticosterone; D006854:Hydrocortisone