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Detection of late onset steroid 21-hydroxylase deficiency by capillary gas chromatographic profiling of urinary steroids in children and adolescents

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Abstract

Patients suffering from late onset 21-hydroxylase deficiency (LO-CAH) excreted only slightly higher amounts of 17-hydroxypregnanolone (17-OH-PO), pregnanetriol (PT) and 11-oxo-pregnanetriol (11-O-PT) than age-matched healthy controls. To discriminate between LO-CAH and virilization of unknown origin and precocious pubarche, we calculated the following ratios: (1) pregnanetriol to tetrahydrocortisone (PT/THE), (2) the sum of 17-OH-PO, PT and 11-O-PT (OHP-M) to the sum of THE, tetrahydrocortisol (THF) and allotetrahydrocortisol (a-THF) (C-M) and (3) 11-O-PT to C-M. The following patients were studied: 9 patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency-non-salt losing (CAH-NSL), never treated; 8 patients with CAH (NSL/SL: 3/5) off treatment; 10 patients with LO-CAH; 11 patients with virilization of unknown origin (prepubertal/pubertal: 5/6) and 9 patients with precocious pubarche. Healthy individuals and obligatory heterozygote carriers of comparable ages served as controls. LO-CAH showed increased ratios (median (range)) of PT/THE: 2.27, (1.15–9.09), OHP-M/C-M: 2.30, (1.24–8.15), and 11-O-PT/C-M: 0.24, (0.13–1.23) compared to healthy individuals and heterozygous carriers: PT/THE 0.28, (0.03–0.57), OHP-M/C-M 0.23, (0.06–0.46) and 11-O-PT/C-M<0.01, (<0.01–0.06), respectively. The calculation of ratios, rather than absolute amounts seems to allow the detection of LO-CAH in a single spontaneously voided urine specimen. The clinical and measurable hormonal manifestations of LO-CAH occur at the same time.

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Abbreviations

LO-CAH:

late onset 21-hydroxylase deficiency

CAH:

congenital adrenal hyperplasia due to 21-hydroxylase deficiency

SL:

salt losing

NSL:

non-salt losing

p.p.:

prepubertal

p.:

pubertal

17-OH-PO:

17-hydroxypregnanolone (5β-pregnane-3α,17α-diol-20-one)

PT:

pregnanetriol (5β-pregnane-3α,17α,20α-triol)

11-O-PT:

11-oxo-pregnanetriol (5β-pregnane-3α,17α,20α-triol-11-one)

THE:

tetrahydrocortisone (5β-pregnane-3α,17α,21-triol-11,20-dione)

THF:

tetrahydrocortisol (5β-pregnane-3α,11β,17α,21-tetrol-20-one)

a-THF:

allotetrahydrocortisol (5α-pregnane-3α,11β,17α,21-tetrol-20-one)

OHP-M:

17-OH-PO+PT+11-O-PT

C-M:

THE+THF+a-THF

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Authors and Affiliations

  1. First Department of Paediatrics, University of Ulm, Prittwitzstrasse 43, D-7900, Ulm/Donau, Federal Republic of Germany

    J. Homoki & W. M. Teller

  2. First Department of Paediatrics, Semmelweis University, Budapest, Hungary

    J. Solyom

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  1. J. Homoki
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Dedicated to Prof. Enno Kleihauer, Ulm, on the occasion of his 60th birthday

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Homoki, J., Solyom, J. & Teller, W.M. Detection of late onset steroid 21-hydroxylase deficiency by capillary gas chromatographic profiling of urinary steroids in children and adolescents. Eur J Pediatr 147, 257–262 (1988). https://doi.org/10.1007/BF00442691

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  • DOI: https://doi.org/10.1007/BF00442691

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