The early recognition of the 21-hydroxylase deficiency variety of congenital adrenal hyperplasia |
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Authors: | G. Steen A.C. Tas M.C.Ten Noever de Brauw N.M. Drayer B.G. Wolthers |
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Affiliation: | 1. Central Laboratory for Clinical Chemistry, University Hospital, Oostersingel 59, GroningenThe Netherlands;2. Central Institute for Nutrition and Food Research, CIVO-TNO, ZeistThe Netherlands;3. Division of Endocrinology, Department of Pediatrics, University Hospital, GroningenThe Netherlands |
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Abstract: | The urinary steroids excreted by three newborn infants with 21-hydroxylase deficiency and by 15 healthy newborns aged two days have been compared after analysis by gas liquid chromatography (GLC). The identity of each steroid was carefully checked by gas chromatography/mass spectroscopy (GC-MS). The enzyme deficiency leads to the elevated excretion of urinary precursor metabolites, mainly 3α,17α,20α-trihydroxy-5β-pregnan, 3α,17α,20α-trihydroxy-5β-pregnan-11-one and 3α,17α-dihydroxy-5β-pregnan-20-one.In the search for a quick and firm confirmation of suspected 21-hydroxylase deficiency in a newborn baby by means of a GLC-profile of urinary steroids, most attention has up to now been paid to 3α,17α,20α-trihydroxy-5β-pregnan. However, 3α,17α-dihydroxy-5β-pregnan-20-one is a better indicator, as it enables one to confirm the existence of this disease soon after birth directly from the GLC-profile without further analyses by GC-MS. |
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Keywords: | 17-OH-Prog 17α-hydroxy-4-pregnen-3,20-dione 17-OH-P olon 3β,17α-dihydroxy-5-pregnen-20-one α,17α,20α-trihydroxy-5β-pregnan 3α,17α, 20α-trihydroxy-5β-pregnan-ll-one 17-OH-Polon-3α 17α-dihydroxy-5β-pregnan-20-one MDC 3α, 12α-dihydroxy-5β-cholanic acid methyl ester 16α-OH-DHEA 3β,16α-dihydroxy-5-androsten-17-one 11-HA 3α,11β-dihydroxy-5α-androstan-17-one 3β,17β-dihydroxy-5-androsten-16-one 16β-OH-DHEA 3β,16β-dihydroxy-5-androsten-17-one DOCA 21-hydroxy-4-pregnen-3,20-dione-acetate THE 3α,17α,21-trihydroxy-5β-pregnan-ll,20-dione 16α-OH P'olon 3β, 16α-dihy-droxy-5-pregnen-20-one 21-OH-p'olon 3β,21-dihydroxy-5-pregnen-20-one |
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