Alfred M. Bongiovanni
Jul 1, 1980
Citations
1
Influential Citations
16
Citations
Journal
Journal of steroid biochemistry
Abstract
Abstract The study of urine of newborn infants with 5-ene-3β-hydroxysteroid deficiency by gas-liquid chromatography permits a precise definition of this condition which can be distinguished from 21-hydroxylase deficiency and normal newborn subjects. There is an elevation of 3β,16α-dihydroxy-5-en-androst-17-one; 3β),16α-dihydroxy-5-pregn-20-one; 5-pregnene-3β,20α-diol and 3β,17α-dihydroxy-5-en-pregn-20-one to a degree not seen in the other instances and 5-pregnen-3β,17α,20α-triol while higher than normal overlap slightly with 21-hydroxylase deficiency. Later on there is no overlap. It is hoped that these standards will be useful in making this diagnosis. In addition, in the 21-hydroxylase deficiency, both 5β-pregnane-3α,17α,20α-triol and 3α,17α,20α-trihydroxy-5β-pregnan-11-one are elevated from the earliest days of life and neither compound is to be found during the first week in 5-ene-3β-hydroxy-steroid dehydrogenase deficiency.