Clemens Kamrath1, Michaela F Hartmann2, Claudia Boettcher2, Stefan A Wudy2. 1. Division of Pediatric Endocrinology and Diabetology, Steroid Research and Mass Spectrometry Unit, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany. Electronic address: Clemens.kamrath@uni-giessen.de. 2. Division of Pediatric Endocrinology and Diabetology, Steroid Research and Mass Spectrometry Unit, Center of Child and Adolescent Medicine, Justus Liebig University, Giessen, Germany.
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.
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.
Authors: Jonathan S Berg; Pankaj B Agrawal; Donald B Bailey; Alan H Beggs; Steven E Brenner; Amy M Brower; Julie A Cakici; Ozge Ceyhan-Birsoy; Kee Chan; Flavia Chen; Robert J Currier; Dmitry Dukhovny; Robert C Green; Julie Harris-Wai; Ingrid A Holm; Brenda Iglesias; Galen Joseph; Stephen F Kingsmore; Barbara A Koenig; Pui-Yan Kwok; John Lantos; Steven J Leeder; Megan A Lewis; Amy L McGuire; Laura V Milko; Sean D Mooney; Richard B Parad; Stacey Pereira; Joshua Petrikin; Bradford C Powell; Cynthia M Powell; Jennifer M Puck; Heidi L Rehm; Neil Risch; Myra Roche; Joseph T Shieh; Narayanan Veeraraghavan; Michael S Watson; Laurel Willig; Timothy W Yu; Tiina Urv; Anastasia L Wise Journal: Pediatrics Date: 2017-01-17 Impact factor: 7.124