Steroid Sulfatase Deficiency: Enzymatic Studies Using Placenta and Leucocytes in One Family

Various placcntal and leucocyte enzyme activities were determined in a male newborn whose mother had decreased urinary E3 and serum total E3 levels during the course of pregnancy, suggesting placental sulfatase deficiency (PSD). Tests revealed that both placental steroid sulfatase (SS) and arylsulfatase C (ASC) were deficient but arylsulfatases A and 15 were normal. SS activity, as well as the levels of arylsulfatases A, B and C, were also determined in the newborn and his family members using leucocytes. SS and ASC activities were deficient in the newborn and one of his male cousins. Both cases had cutaneous ichthyosis several weeks after birth. Leucocyte SS and ASC activities in the mother and grandmother of these two cases with steroid sulfatase deficiency (SSD) were 38% to 69% of the mean levels in the control. This, coupled with the results of the family investigation, strongly suggests that the deficiency is a sex-linked recessive hereditary condition. Control values for SS and ASC were higher in females than in males. These results indicate that the diagnosis of SSD and the screening of carriers can be made using both leucocytic SS and ASC activities. Estrogen E1, E2 and E3 levels were low in maternal and umbilical cord blood.