Early diagnosis of 11 beta-hydroxylase deficiency in two siblings confirmed by analysis of a novel steroid metabolite in newborn urine.
Plasma and urinary steroid measurements are reported in 2 normotensive newborn female siblings with virilized external genitalia due to 11 beta-hydroxylase deficiency. Plasma 11-deoxycortisol concentrations were markedly elevated whereas 17OH-progesterone concentrations were not raised. Plasma renin activity was suppressed, but increased to levels characteristic of infancy within 4 weeks of treatment. The enzyme defect was confirmed by measurement of increased urinary excretion of tetrahydro-11-deoxycortisol. A more polar steroid metabolite, 6 alpha-hydroxytetrahydro-11-deoxycortisol was also determined by gas chromatographic and mass spectrometric analysis. Analysis of metabolites in urine is an additional specific marker to plasma 11-deoxycortisol measurement for the diagnosis of 11 beta-hydroxylase deficiency in early infancy.
D015065:17-Hydroxycorticosteroids / Q000652:urine*; D019326:17-alpha-Hydroxyprogesterone; D000312:Adrenal Hyperplasia, Congenital; D000736:Androstenes / Q000652:urine; D003350:Cortodoxone / Q000031:analogs & derivatives / Q000097:blood / Q000652:urine*; D005260:Female; D006801:Humans; D006854:Hydrocortisone / Q000097:blood; D006908:Hydroxyprogesterones / Q000097:blood; D007223:Infant; D007231:Infant, Newborn; D012083:Renin / Q000097:blood; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013739:Testosterone / Q000097:blood; D014770:Virilism / Q000175:diagnosis / Q000235:genetics* / Q000378:metabolism
D015065:17-Hydroxycorticosteroids; D000736:Androstenes; D006908:Hydroxyprogesterones; D013739:Testosterone; C009412:tetrahydro-11-deoxycortisol; D019326:17-alpha-Hydroxyprogesterone; D013250:Steroid Hydroxylases; D012083:Renin; D003350:Cortodoxone; D006854:Hydrocortisone