Study on Placental Sulfatase Deficiency ; Diagnosis, Treatment and Genetics

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Placental sulfatase deficiency(PSD)is a rare disorder with low estrogen production due to placental enzymatic deficiency- PSD is diagnosed by in vitro placental enzyme assay. In Japan, we have confirmed 65 cases of this disorder since 1979. In the present investigation, we have analysed the clinical data of 65 cases including the mode of delivery, family pedigree, birth weight of the infants, placental weight, developent of ichthyosis during the period of 1-3 months after birth. In addition, sulfatasse activity in peripheral blood leukocytes isolated from normal women and men, and the activity was compared to that from the PSD mothers and the infants. Deficiency of the sulfatase of the placenta obtained was confirmed by in vitro incubation with ^<14>C-DHA-Sulfate and the activity was expressed as the amounts of the free steroid. Characteristic absence and or an extremely low level of sulfatase activity was noticed in all the placenta obtained. In regard to the mode of delivery, pregnan … More cy was terminated by cesarean section in 47% of the cases. Spontaneous labor was observed only 27%. Sixty infants developed ichythyosis and all affected fetuses were males. The steroid sulfatase activity in female leukocytes was significantly stronger than that in normal males. Sulfatase in leukocytes obtained from the PSD babies and recessive X-linked ichthyosis patients had lower sensitivity. In the case of the mother affected with PSD, the activity was less than the half of that in normal men and the levels did not overlap with that in normal women suggesting that the measurement of leukocyte sulfatase activity would be a clinically useful tool for the diagnosis of PS @-arriers and pedigree analysis.Steroid sulfatase was purified approximately 170-fold from normal human placental microsome and properties of the enzyme were, Nnvestigated. The purified sulfatase showed a molecular weight of 500 -, OKDA on HPLC gel filtration, whereas the enzyme migrated as a molecular mass of 73KDa on sodium dodecyl sulfate polyacrylamide gel electro phoresis. Amino acid analysis revealed that the purified human placental sulfatase did not contain cystein residue. Addition of phosphatidylcholine did not enhance the enzyme activity in the placental microsomes obtained from the patients with PSD after solvilization and chromatofocusing. This result indicates that PSD is the result of defect of the enzyme rather than the defect in membrane-enzyme structure. Less