Journal article

Publication year: 2016

Pages: 10-16

Journal: The Journal of Steroid Biochemistry and Molecular Biology

Volume number: 156

ISSN: 0960-0760

DOI Link: https://doi.org/10.1016/j.jsbmb.2015.10.013

Publisher: Elsevier

Abstract: 

One major issue of newborn screening programs for 21-hydroxylase deficiency (21OHD) is the high rate of false-positive results, especially in preterm neonates. Urinary steroid metabolite analysis using gas chromatography-mass spectrometry (GC-MS) is suitable as a confirmatory diagnostic tool.

The objective of this study was to analyze retrospectively diagnostic metabolite ratios in neonates and infants with and without 21OHD using GC-MS with emphasis on glucocorticoid metabolism, and to develop reference values for the steroid metabolite ratios for the diagnosis of 21OHD.

We retrospectively analyzed urinary steroid hormone metabolites determined by GC-MS of 95 untreated neonates and infants with 21OHD (1-148 days), and 261 neonates and infants (100 preterms) without 21OHD (0-217 days).

Metabolites of 17 alpha-hydroxyprogesterone showed specificities below 98%, whereas the 21-deoxycortisol metabolite pregnanetriolone clearly separated 21OHD from non-21OHD subjects. The best diagnostic ratio for 21OHD was pregnanetriolone to 6 alpha-hydroxy-tetrahydrocortisone. The lowest value of this ratio in the 21OHD group (0.47) was at least eight times higher than the highest values in the non-21OHD group (0.055).

We have given appropriate reference values for steroid metabolite ratios in the largest 21OHD cohort so far described. Consideration of glucocorticoid metabolism, especially the use of typical neonatal 6 alpha-hydroxylates metabolites, leads to improvement of diagnostic metabolite ratios. (C) 2015 Elsevier Ltd. All rights reserved.

Harvard Citation style: Kamrath, C., Hartmann, M., Boettcher, C., Zimmer, K. and Wudy, S. (2016) Diagnosis of 21-hydroxylase deficiency by urinary metabolite ratios using gas chromatography-mass spectrometry analysis: Reference values for neonates and infants, The Journal of Steroid Biochemistry and Molecular Biology, 156, pp. 10-16. https://doi.org/10.1016/j.jsbmb.2015.10.013

APA Citation style: Kamrath, C., Hartmann, M., Boettcher, C., Zimmer, K., & Wudy, S. (2016). Diagnosis of 21-hydroxylase deficiency by urinary metabolite ratios using gas chromatography-mass spectrometry analysis: Reference values for neonates and infants. The Journal of Steroid Biochemistry and Molecular Biology. 156, 10-16. https://doi.org/10.1016/j.jsbmb.2015.10.013