Gas Chromatographic Steroid Analysis for Diagnosis of Placental Sulfatase Deficiency: A Study of Nine Patients

The excretion of 11 urinary steroid sulfates was compared in 9 pregnancies with placental sulfatase deficiency (PSD) proven by in vitro incubation experiments, 1 pregnancy associated with fetal congenital adrenal hypoplasia, 1 in a woman on treatment with a skin cream containing the synthetic corticosteroid clobetasol propionate (CS), and in 10 normal women. Excretion of all steroids was very high in the PSD group, with no overlap of values with the normal group except for dehydroepiandrosterone (DHEA); excretion of 16α-hydroxypregnenolone was 33-fold, 5-androstene-3β,16α,17β-triol (androstenetriol) excretion was 14-fold, and 16α-hydroxy-DHEA excretion was 19- fold in excess of normal (mean values). One sample of plasma from a woman with PSD contained large excesses of these steroids compared with published normal values. In the congenital adrenal hypoplasia and CS women, DHEA was low; 16αhydroxy-DHEA was low in CS. Excretion of other steroid sulfateswas normal. Mean umbilical vein concentrations of 6 steroid sulfates were higher in 4 PSDpatients than in 4 normals, but the differences were not significant; however, amniotic fluid levels were high (3 PSD) but less than 2 SDS from values for a 1- liter normal pool.Results for both groups were widely spread. Levels of nearly all steroids in urine from the neonates (4 PSD and 19 controls) were statistically similar and there were no differences in types of conjugates excreted. Of the women with PSD pregnancies, 2 had premature labor, while none was allowed to proceed beyond term. Cesarean section was required in 5 cases. All infants were healthy males. We conclude that measurement of steroid sulfates inurine is an efficient method of identifying pregnant women with PSD.