ANDROSTENE SULFATES IN AMNIOTIC FLUID AND CORD BLOOD: A POSSIBLE APPROACH TO PRENATAL DIAGNOSIS OF SMITH LEMLI-OPITZ SYNDROME (SLO)

Abstract

We have previously shown that during the first month of life there are 4 androstene sulfates present in serum. Two of these have been identified as the sulfates of dehydroepiandrosterone (DHEA) and 16α-hydroxy-DHEA; the others (II and IV) are unidentified. Of the four, DHEA-sulfate is present in the smallest amounts. We have extended our studies to cord blood and second trimester amniotic fluid. Steroid sulfates were extracted with ethanol-ethyl acetate (1:2) and hydrolyzed with Helix pomatia extract; the 5-androstenes were sparated by flash chromatography and detected in a radioimmunoassay in which DHEA and 16α-hydroxy-DHEA crossreact but pregnenolone and 17-hydroxy-pregnenolone do not. DHEA, 16α-hydroxy DHEA and II (an acidlabile material) were found in both cord blood and amniotic fluid; IV was not present in either. When (7α-³H)DHEA-sulfate was added to cord blood or amniotic fluid, no radiolable was found in II or 16-α-hydroxy-DHEA. Thus, neither is an artifact of isolation. Compound II may represent the product of an hitherto unidentified pathway. In the first week of life, children with SLO do not have II in their serum. The fact that this material is present in second trimester amniotic fluid from pregnancies with a normal outcome, suggests that it may possible to diagnose SLO prenatally, if the deficit in II concentration begins early in gestation.

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