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Diagnosis of 21-hydroxylase deficiency by urinary metabolite ratios using gas chromatography–mass spectrometry analysis: Reference values for neonates and infants
- Source :
- The Journal of Steroid Biochemistry and Molecular Biology. 156:10-16
- Publication Year :
- 2016
- Publisher :
- Elsevier BV, 2016.
-
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 17α-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 6α-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 6α-hydroxylates metabolites, leads to improvement of diagnostic metabolite ratios.
- Subjects :
- Male
0301 basic medicine
Pregnanetriol
medicine.medical_specialty
Endocrinology, Diabetes and Metabolism
Urinary system
medicine.medical_treatment
Metabolite
Clinical Biochemistry
Physiology
030209 endocrinology & metabolism
Biology
Biochemistry
Gas Chromatography-Mass Spectrometry
Cohort Studies
03 medical and health sciences
chemistry.chemical_compound
0302 clinical medicine
Endocrinology
Reference Values
Internal medicine
medicine
Humans
Metabolomics
Tetrahydrocortisone
Congenital adrenal hyperplasia
Molecular Biology
Newborn screening
Adrenal Hyperplasia, Congenital
Infant, Newborn
21-Hydroxylase
Infant
Cell Biology
medicine.disease
Steroid hormone
030104 developmental biology
chemistry
biology.protein
Molecular Medicine
Female
Steroids
Subjects
Details
- ISSN :
- 09600760
- Volume :
- 156
- Database :
- OpenAIRE
- Journal :
- The Journal of Steroid Biochemistry and Molecular Biology
- Accession number :
- edsair.doi.dedup.....389750e6348c926a86eb342463ecbe4b