Hum Genet. 1979 Jan 25;46(2):199-207.

Clinical and biochemical investigations on patients with partial deficiency of placental steroid sulfatase.

Hameister H, Wolff G, Lauritzen CH, Lehmann WO, Hauser A, Ropers HH.

Abstract

We report on three independent cases with a partial deficiency of placental steroid sulfatase (E.C.3.1.6.2). Upon routine pregnancy monitoring these patients were detected on the basis of low estriol excretion and failing induction of labor. In all three cases a male was delivered and subsequently the diagnosis of partial deficiency of placental steroid sulfatase was confirmed enzymatically in placenta homogenates. In one case, fibroblast cultures were established from skin explants of mother and son. In fibroblasts of the child, as in placental tissue, the activity of steroid sulfatase was only 34% of normal. Similar values were obtained for arylsulfatase C, though this enzyme is clearly separable from steroid sulfatase by electrophoresis. In cells of the mother, enzyme activities were unremarkable.

PMID:: 422203; [PubMed - indexed for MEDLINE]

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Cited by 3 PubMed Central articles

X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Histochemical observations. [Am J Pathol. 1980]
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Placental steroid deficiency: association with arylsulfatase A deficiency.
Vidgoff J, Buxman MM, Shapiro LJ, Dimond RL, Wilson TG, Hepburn CA, Tabei T, Heinrichs WR. Am J Hum Genet. 1982 May; 34(3):434-43.

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Clinical and biochemical investigations on patients with partial deficiency of placental steroid sulfatase.

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