Abstract | OBJECTIVE: To characterize the urinary steroid metabolome of neonates and infants born either at term or preterm. STUDY DESIGN: We retrospectively analyzed urinary steroid hormone metabolites determined by gas chromatography-mass spectrometry of 78 neonates and infants born at term and 83 neonates and infants born preterm (median 34 weeks of gestational age). The subjects' 11β-hydroxylase and 21-hydroxylase activities were assessed on the basis of urinary metabolite substrate-to-product ratios. RESULTS: Preterm neonates and infants had elevated urinary concentrations of 17α-hydroxyprogesterone (17OHP) metabolites (P<.001) but lower urinary concentrations of the 21-deoxycortisol metabolite pregnanetriolone (PTO) (P<.01). One reason was lower 11β-hydroxylase activity in preterms. We could demonstrate a correlation between low 11β-hydroxylase activity and high urinary concentrations of 17OHP metabolites (r=0.51, P<.001) but low urinary concentrations of the 21-deoxycortisol metabolite PTO (r=-0.24, P=.03) in preterms. CONCLUSIONS: Low 11β-hydroxylase activity may explain increased 17OHP but decreased 21-deoxycortisol metabolite excretion in preterms. Our analysis clarifies, first, why preterms have higher 17OHP levels and thus higher rates of false-positive screening results for congenital adrenal hyperplasia than do term infants, and, second, why 21-deoxycortisol or its urinary metabolite PTO is more specific than 17OHP for the diagnosis of 21-hydroxylase deficiency.
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Authors | Clemens Kamrath, Michaela F Hartmann, Claudia Boettcher, Stefan A Wudy |
Journal | The Journal of pediatrics
(J Pediatr)
Vol. 165
Issue 2
Pg. 280-4
(Aug 2014)
ISSN: 1097-6833 [Electronic] United States |
PMID | 24862381
(Publication Type: Journal Article)
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Copyright | Copyright © 2014 Elsevier Inc. All rights reserved. |
Chemical References |
- Pregnanetriol
- pregnanetriolone
- 21-deoxycortisol
- 17-alpha-Hydroxyprogesterone
- Steroid 17-alpha-Hydroxylase
- Steroid 11-beta-Hydroxylase
- Cortodoxone
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Topics |
- 17-alpha-Hydroxyprogesterone
(urine)
- Adrenal Hyperplasia, Congenital
(enzymology, urine)
- Chromatography, Gas
- Cortodoxone
(urine)
- Female
- Gas Chromatography-Mass Spectrometry
- Humans
- Infant
- Infant, Newborn
- Infant, Premature
- Male
- Mass Spectrometry
- Metabolome
- Pregnanetriol
(analogs & derivatives, urine)
- Retrospective Studies
- Steroid 11-beta-Hydroxylase
(blood)
- Steroid 17-alpha-Hydroxylase
(blood)
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