Reduced activity of 11β-hydroxylase accounts for elevated 17α-hydroxyprogesterone in preterms

J Pediatr. 2014 Aug;165(2):280-4. doi: 10.1016/j.jpeds.2014.04.011. Epub 2014 May 23.


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.

MeSH terms

  • 17-alpha-Hydroxyprogesterone / urine*
  • Adrenal Hyperplasia, Congenital / enzymology*
  • Adrenal Hyperplasia, Congenital / urine*
  • Chromatography, Gas
  • Cortodoxone / urine
  • Female
  • Gas Chromatography-Mass Spectrometry
  • Humans
  • Infant
  • Infant, Newborn
  • Infant, Premature*
  • Male
  • Mass Spectrometry
  • Metabolome
  • Pregnanetriol / analogs & derivatives
  • Pregnanetriol / urine
  • Retrospective Studies
  • Steroid 11-beta-Hydroxylase / blood*
  • Steroid 17-alpha-Hydroxylase / blood


  • Pregnanetriol
  • pregnanetriolone
  • 21-deoxycortisol
  • 17-alpha-Hydroxyprogesterone
  • Steroid 17-alpha-Hydroxylase
  • Steroid 11-beta-Hydroxylase
  • Cortodoxone