PEDIATRICS Vol. 49 No. 2 February 1972, pp. 198-205
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DIFFICULTIES IN THE DIAGNOSIS OF THE ADRENOGENITAL SYNDROME IN INFANCY

C. H. Shackleton Ph.D.1, F. L. Mitchell D.Sc.1, and J. W. Farquhar M.D.1

1 Medical Research Council, Clinical Research Centre, Watford Road, Harrow, Middlesex, England and Royal Hospital for Sick Children, Sciennes Road, Edinburgh, Scotland

Pregnanetriol was not excreted by an infant (7 days old) who was later shown to have a defect in steroid 21-hydroxylase. However, the excretion of this compound increased during the following days (1.2 mg on the thirteenth day of life). A high excretion of 3beta-hydroxy-Dgr steroids was the most noticeable abnormality in steroid excretion noted on the seventh day of life (e.g., 3beta, 16agr-dihydroxy-5-pregnen-20-one, 15 mg; 3beta, 21-dihydroxy-5-pregnen-20-one, 1.4 mg and 3beta, 16agr-dihydroxy-5-androsten-17-one, 7.4 mg). This high 3beta-hydroxy-Dgr steroid excretion results in difficulties in distinguishing a defect in 3beta-hydroxy steroid dehydrogenase from a 21-hydroxylase deficiency.

At the age of 14 months the principal steroids excreted were those predominant in other cases of 21-hydroxylase deficiency, viz. pregnanetriol and 5beta-pregnane-3agr, 17agr, 20agr-triol-11-one (11-oxo-pregnanetriol).

Submitted on February 2, 1971
Accepted on July 29, 1971




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[Abstract] [PDF]