3 : 21-Dihydroxypregn-5-ene-20-one in Urine of Normal Newborn Infants and in Third Day Urine of Child with Deficiency of 3 -hydroxysteroid-dehydrogenase

Abstract

The occurence of the steroid 30 21-dihydroxypregn-5-ene-20-one in the urine of normal newborn infants is Interpreted as signifying that the newborn infant makes use of a pathway for the biosynthesis of corticosteroids involving 21 hydroxypregnenolone which is of little importance in the adult. It is suggested that the significant excretion of delta5-steroids by normal newborn infants reflects a relative deficiency of the enzyme 3[beta]hydroxysteroid dehydrogenase in the adrenal glands at this stage of life. Although normal, newborn infants have a high output of steroids retaining the delta5-structure, quantitative comparison of the individual neutral steroids excreted by normal iniants and by an infant with permanent deficiency of 30-hydroxysteroid dehydrogenase has made it possible to diagnose this endocrine abnormality with certainty as early as the 3rd day of life, because of the much greater quantities of delta5 steroids excreted by this infant.