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

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 less than 0.01, (less than 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.

• Authors: J Homoki, J Solyom, W M Teller
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 147 Issue 3 Pg. 257-62 (Apr 1988) ISSN: 0340-6199 [Print] Germany
• PMID: 3260557 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Pregnanes
• Pregnanetriol
• 17-hydroxypregnanolone
• pregnanetriolone
• Tetrahydrocortisol
• Pregnanolone
• Steroid Hydroxylases

Topics

• Adolescent
• Adrenal Hyperplasia, Congenital (urine)
• Adult
• Child
• Child, Preschool
• Chromatography, Gas
• Female
• Humans
• Infant
• Male
• Pregnanes (urine)
• Pregnanetriol (analogs & derivatives, urine)
• Pregnanolone (analogs & derivatives, urine)
• Puberty, Precocious (urine)
• Steroid Hydroxylases (deficiency)
• Tetrahydrocortisol (urine)
• Virilism (urine)