The diagnosis of 21-hydroxylase deficiency in a prematurely born infant on the basis of the urinary steroid excretion pattern

Clinica Chimica Acta; International Journal of Clinical Chemistry
K R van der PloegN M Drayer

Abstract

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 d...Continue Reading

References

May 2, 1978·Clinica Chimica Acta; International Journal of Clinical Chemistry·N F TaylorC H Shackleton
May 1, 1977·Journal of Steroid Biochemistry·I Huhtaniemi
Dec 1, 1971·The Journal of Clinical Investigation·A M BongiovanniT Moshang
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Citations

Jan 1, 1986·Journal of Inherited Metabolic Disease·J Honour
Feb 15, 1985·Clinica Chimica Acta; International Journal of Clinical Chemistry·B G WolthersA P van Seters
Oct 30, 1987·Clinica Chimica Acta; International Journal of Clinical Chemistry·B G WolthersG T Nagel
May 1, 1993·The Journal of Steroid Biochemistry and Molecular Biology·G P KraanG E Joannou
Oct 1, 1988·Australian Paediatric Journal·A B YongJ F Connelly
Nov 1, 1991·Pediatric Nephrology : Journal of the International Pediatric Nephrology Association·R H VeenhovenM A Schalekamp

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