Detection of 3β-hydroxysteroid dehydrogenase deficiency in a newborn by means of urinary steroid analysis

B. G. Wolthers; I. J. de Vries; M. Volmer; G. T. Nagel

doi:10.1016/0009-8981(87)90399-8

Detection of 3β-hydroxysteroid dehydrogenase deficiency in a newborn by means of urinary steroid analysis

B. G. Wolthers^*
, I. J. de Vries
, M. Volmer
, G. T. Nagel

^*Corresponding author for this work

University Hospital
Amsterdam UMC - University of Amsterdam

Research output: Contribution to journal › Article › Academic › peer-review

Abstract

A urinary steroid excretion pattern of a 3-wk-old newborn, suffering from 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency, has been produced, employing capillary gas chromatography and subsequent mass spectrometric identification of the various excreted steroids. The diagnosis could be established, apart from the clinical symptoms, on the basis of a grossly elevated excretion of 16-OH-DHEA and 16-OH-pregnenolone, combined with mass spectrometric identification of the following steroids: 17-OH-pregnanolone, pregnanetriol, pregnenediol, pregnenetriol and 17-OH-pregnenolone. © 1987.

Original language	English
Pages (from-to)	109-116
Journal	Clinica Chimica Acta
Volume	169
Issue number	1
DOIs	https://doi.org/10.1016/0009-8981(87)90399-8
Publication status	Published - 30 Oct 1987
Externally published	Yes

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10.1016/0009-8981(87)90399-8

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title = "Detection of 3β-hydroxysteroid dehydrogenase deficiency in a newborn by means of urinary steroid analysis",

abstract = "A urinary steroid excretion pattern of a 3-wk-old newborn, suffering from 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency, has been produced, employing capillary gas chromatography and subsequent mass spectrometric identification of the various excreted steroids. The diagnosis could be established, apart from the clinical symptoms, on the basis of a grossly elevated excretion of 16-OH-DHEA and 16-OH-pregnenolone, combined with mass spectrometric identification of the following steroids: 17-OH-pregnanolone, pregnanetriol, pregnenediol, pregnenetriol and 17-OH-pregnenolone. {\textcopyright} 1987.",

author = "Wolthers, \{B. G.\} and \{de Vries\}, \{I. J.\} and M. Volmer and Nagel, \{G. T.\}",

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doi = "10.1016/0009-8981(87)90399-8",

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T1 - Detection of 3β-hydroxysteroid dehydrogenase deficiency in a newborn by means of urinary steroid analysis

AU - Wolthers, B. G.

AU - de Vries, I. J.

AU - Volmer, M.

AU - Nagel, G. T.

PY - 1987/10/30

Y1 - 1987/10/30

N2 - A urinary steroid excretion pattern of a 3-wk-old newborn, suffering from 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency, has been produced, employing capillary gas chromatography and subsequent mass spectrometric identification of the various excreted steroids. The diagnosis could be established, apart from the clinical symptoms, on the basis of a grossly elevated excretion of 16-OH-DHEA and 16-OH-pregnenolone, combined with mass spectrometric identification of the following steroids: 17-OH-pregnanolone, pregnanetriol, pregnenediol, pregnenetriol and 17-OH-pregnenolone. © 1987.

AB - A urinary steroid excretion pattern of a 3-wk-old newborn, suffering from 3β-hydroxysteroid dehydrogenase (3β-HSD) deficiency, has been produced, employing capillary gas chromatography and subsequent mass spectrometric identification of the various excreted steroids. The diagnosis could be established, apart from the clinical symptoms, on the basis of a grossly elevated excretion of 16-OH-DHEA and 16-OH-pregnenolone, combined with mass spectrometric identification of the following steroids: 17-OH-pregnanolone, pregnanetriol, pregnenediol, pregnenetriol and 17-OH-pregnenolone. © 1987.

UR - https://www.scopus.com/pages/publications/0023629843

UR - https://www.ncbi.nlm.nih.gov/pubmed/3479282

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DO - 10.1016/0009-8981(87)90399-8

M3 - Article

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SN - 0009-8981

VL - 169

SP - 109

EP - 116

JO - Clinica Chimica Acta

JF - Clinica Chimica Acta

IS - 1

ER -

Detection of 3β-hydroxysteroid dehydrogenase deficiency in a newborn by means of urinary steroid analysis

Abstract

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