3β OH steroid sulfate sulfatase deficiency: demonstration of the genetic defect in cell culture

L. J. Shapiro, R. S. Weiss

    Research output: Contribution to journalArticlepeer-review

    Abstract

    The authors have recently reported a case of an inherited deficiency of placental 3β-OH steroid sulfatase (SS) activity. The defect involves the expression of a neutral pH optimal, microsomal sulfatase, which is chemically and genetically distinct from the lysosomal enzymes arylsulfatase A, arylsulfatase B, iduronate sulfatase, and heparan N-sulfatase. The consequences of this enzymopathy in mothers carrying affected fetuses are: (1) markedly diminished estriol excretion; (2) delayed onset of labor and lack of cervical dilatation; (3) relative refractoriness to oxytocic agents and amniotomy. Twelve affected patients reported to date have been males, and so X-linked inheritance has been proposed. Due to the lack of apparent clinical problems of affected children after birth, it has been suggested that this is a localized placental enzyme deficiency. The authors have studied SS using dehydroepiandrosterone sulfate as substrate in normal fibroblast homogenates and have found the mean activity to be 659 (range 318-1283) p moles desulfated/mg protein/hr. Normal activity was also present in cells from patients with inherited aryl A, aryl B, and iduronate sulfatase deficiency. Fibroblasts from an individual with placental SS deficiency had no detectable activity. This implies that SS deficiency may be a generalized finding in tissues of these patients and persists postnatally. Therefore, other phenotypic manifestations of this inborn aberration should be sought.

    Original languageEnglish
    Pages (from-to)No.111
    JournalUnknown Journal
    VolumeNo. 397
    StatePublished - Jan 1 1976

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