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Steroid Sulfatase Deficiency: Enzymatic Studies Using Placenta and Leucocytes in One Family
Author(s) -
Sakai Sumitaka,
Honda Hiroshi,
Kawai Nobuhide,
Sakurai Norio,
Arimoto Kiyoshi
Publication year - 1986
Publication title -
asia‐oceania journal of obstetrics and gynaecology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.597
H-Index - 50
eISSN - 1447-0756
pISSN - 0389-2328
DOI - 10.1111/j.1447-0756.1986.tb00234.x
Subject(s) - steroid sulfatase , endocrinology , umbilical cord , medicine , ichthyosis , arylsulfatase , placenta , pregnancy , cord blood , sulfatase , estrogen , enzyme , fetus , physiology , biology , steroid , immunology , hormone , genetics , biochemistry , dermatology
Various placcntal and leucocyte enzyme activities were determined in a male newborn whose mother had decreased urinary E 3 and serum total E 3 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 E 1 , E 2 and E 3 levels were low in maternal and umbilical cord blood.