Diagnosis of 21-hydroxylase deficiency in newborn infants by GC-MS of urinary steroids
| Autor: | James Pitt, Arthur B.W. Yong, J. Montalto, Garry L. Warne, J. F. Connelly, H. E. Davies |
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| Rok vydání: | 1988 |
| Předmět: |
Male
medicine.medical_specialty Pregnanetriol Pregnanetriolone Urinary system Physiology Urine Gas Chromatography-Mass Spectrometry chemistry.chemical_compound Internal medicine medicine Humans Congenital adrenal hyperplasia Adrenal Hyperplasia Congenital biology business.industry Infant Newborn 21-Hydroxylase Hyperplasia medicine.disease Endocrinology chemistry Steroid Hydroxylases Pediatrics Perinatology and Child Health biology.protein Female Progestins Gas chromatography–mass spectrometry business |
| Zdroj: | Journal of Paediatrics and Child Health. 24:280-285 |
| ISSN: | 1440-1754 1034-4810 |
| DOI: | 10.1111/j.1440-1754.1988.tb01363.x |
| Popis: | In a study using gas chromatography-mass spectrometry (GC-MS) on urine specimens from 16 normal infants and 16 infants with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency (aged 1 day to 4 weeks), the major steroids recognized in all infants were: 16 alpha-hydroxy-dehydroepiandrosterone, 16 beta-hydroxy-dehydroepiandrosterone, 16-oxo-androstenediol, androstenetriol, 15 beta,17 alpha-dihydroxy-pregnenolone and 16 alpha-hydroxy-pregnenolone. Pregnanetriol was detectable in three normal infants (aged 3, 6 and 15 days) but the levels seen in 15 CAH patients were in a higher range. Pregnanetriolone, 5 beta-17-hydroxy-pregnanolone and 15 beta,17 alpha-dihydroxy-pregnanolone were present in the urine of 15 CAH patients, but were not detectable in any of the normal infants. The older the patient, the higher the level was of each of these four steroids. The results indicate that, even on day 1, patients with CAH due to 21-hydroxylase deficiency may be positively identified using GC-MS of urine specimens. This does not preclude the possibility that a minority of patients with CAH, most likely those with mild 21-hydroxylase deficiency, may not exhibit the characteristic GC-MS findings on day 1, as seen in one of the 16 CAH patients. |
| Databáze: | OpenAIRE |
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