Two 16α-hydroxyC21-steroids, three 16-oxygenated-C19-steroids, pregnanediol and seven C19-steroids were separated and quantitatively determined in the urine of 7 salt-loosing patients with congenital adrenal hyperplasia (deficient in C21-hydroxylase), aged from 4 wk to 13 yr. Out of the 12 urine samples studied, 3 were collected before the beginning of corticoid treatment and 9 were obtained during corticoid therapy with a dose partially suppressing endogenous ACTH secretion. Depending upon the extent of the suppression of endogenous ACTH secretion, the intensity of steroidogenesis showed great variation, and therefore, instead of evaluation on the basis of absolute amounts, steroids were divided into groups and characterized by their excretion ratio relative to 17α-hydroxy-pregnanolone. The excretion of 16-oxygenated-C21- and -C19-steroids dramatically decreased after the age of 8 wk, which may be explained by the regression of the foetal zone of the adrenal gland and the decrease of the 16-hydroxylase activity of the liver. At the age of 3-6 yr, the excretion of total C19-steroids increased moderately and continuously, parallel to which a well-defined increase in the excretion of 16α-hydroxy-C21-steroids was observed. In puberty, the excretion of total C19-steroids increased further; however, this was not accompanied by an increase in C21-16α-hydroxylation - on the contrary, a decrease of the latter was observed. The excretion of 16-oxygenated-C19-steroids and that of the pregnanediol increased parallel with that of total C19-steroids in puberty; this increase may be connected with the adrenarche. It was established that in children with 21-hydroxylase deficiency, submitted to substitutive corticoid therapy, the changes in steroid metabolism characteristic both of the first months of infancy and of puberty essentially occur at times similar to the physiological ones. A difference was observed, however, between the ages of 3 and 6, inasmuch as the excretion of 16α-hydroxy-C21-steroids increased. This pointed to a correlation between C21-16α-hydroxylation and C17,20-lyase in 21-hydroxylase deficiency.
|Number of pages||19|
|Journal||Acta Biochimica et Biophysica Academiae Scientiarum Hungaricae|
|Publication status||Published - Dec 1 1981|
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