The diagnosis of 21-hydroxylase deficiency in a prematurely born infant on the basis of the urinary steroid excretion pattern.
The urine of a 6-day-old prematurely born female infant (birth weight 1060 g) suspected of having a 21-OH-deficiency showed no steroid abnormalities on capillary GLC analysis. Using GC-MS tetrahydrocortisone (THE) and also 3 alpha, 17 alpha-dihydroxy-5 beta-pregnane-20-one (17-OH-Polone) were absent, but two androstanetriolone peaks were observed. In the urine collected on day 9 THE was absent, but a large amount of 3 alpha, 11 beta-dihydroxy-5-alpha-androstane-17-one (11-HA) was found by GC-MS to be contaminated by a small amount of 17-OH-Polone. The next urine specimen collected on the 22nd day while the child received cortisol therapeutically showed the characteristic steroid profile for the diagnosis 21-OH deficiency, large peaks of 17-OH-Polone, pregnanetriol (P3) and 11-keto-pregnanetriol (11-keto-P3). Over the next few weeks two other compounds were found to have been excreted in relatively large amounts, 3 xi, 16 xi, 17 xi, 20 xi-pregnanetetrol (16-OH-P3) and surprisingly also a 21-hydroxylated compound, namely 3 xi, 20 alpha, 21-trihydroxy-5-pregnene. These same two compounds were also found in the urine of another infant with suspected 21-OH deficiency. The urinary steroid excretion patterns characteristic for 21-OH deficiency are dependent on the maturity and age of the infant. In the prematurely born infant androstanetriolones appear in the urine before 17-OH-Polone. The occurrence of these different steroid excretion patterns is tentatively explained.
D000312:Adrenal Hyperplasia, Congenital; D000375:Aging; D000731:Androstanes / Q000652:urine; D002849:Chromatography, Gas; D005260:Female; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D006854:Hydrocortisone / Q000031:analogs & derivatives / Q000627:therapeutic use; D007231:Infant, Newborn; D007234:Infant, Premature; D008297:Male; D011278:Pregnanes / Q000652:urine; D011279:Pregnanetriol / Q000031:analogs & derivatives / Q000652:urine; D011280:Pregnanolone / Q000031:analogs & derivatives / Q000652:urine; D011283:Pregnenes / Q000652:urine; D013250:Steroid Hydroxylases / Q000172:deficiency*; D013256:Steroids / Q000652:urine*; D013761:Tetrahydrocortisone / Q000652:urine
D000731:Androstanes; D011278:Pregnanes; D011283:Pregnenes; D013256:Steroids; D011279:Pregnanetriol; C013051:17-hydroxypregnanolone; D013761:Tetrahydrocortisone; C009030:pregnanetriolone; D011280:Pregnanolone; D013250:Steroid Hydroxylases; C007133:hydrocortisone hemisuccinate; D006854:Hydrocortisone