A syndrome of growth retardation, salt wasting, hypoaldosteronism, and elevated urinary Porter-Silber reacting steroids is described in two infant siblings. Their excessive urinary excretion of 18-hydroxytetrahydro compound A (18-OH-THA), the major metabolite of 18-hydroxycorticosterone, suggested an enzyme defect in the dehydrogenation of 18-hydroxycorticosterone to aldosterone. A simple method is outlined for the detection of this syndrome based upon the finding of a distinctive pattern of urinary steroid response to suppressive doses of various hormones. Advantage was taken of the fact that 18-OH-THA is a Porter-Silber positive steroid. Thus, total urinary Porter-Silber chromogens, and specifically 18-OH-THA, (1) were increased by sodium deprivation, (2) were not suppressed by dexamethasone, but (3) were promptly suppressed to normal levels following the administration of salt and deoxycorticosterone acetate. A quantitative method for the determination of urinary 18-OH-THA based upon the Porter-Silber reaction is also outlined. The subtle clinical manifestations of this disorder are emphasized. Growth retardation was the predominant feature in our patients. The abnormality in serum electrolytes was transient in one, although the biochemical defect persisted. Response to salt and mineralocorticoid therapy in both cases was manifested by prompt clinical improvement, especially in growth rate.
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David et al. (1968) studied this question.