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Steroid sulfatase deficiency

L J Shapiro, L Cousins, A L Fluharty

    Pediatric Research
    |August 1, 1977
    PubMed
    Summary
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    Placental steroid sulfatase deficiency, a rare genetic disorder, impairs labor progression due to deficient sulfatase enzyme activity. This defect, detectable during pregnancy, may lead to postnatal health issues.

    Area of Science:

    • Biochemistry
    • Genetics
    • Reproductive Medicine

    Background:

    • Placental steroid sulfatase deficiency is a recently identified genetic disorder.
    • Documented cases often present with labor complications like delayed onset and poor cervical dilation.

    Observation:

    • Patient's placenta, cultured fibroblasts, and amniotic fluid cells were analyzed.
    • Severely deficient activity of estrone sulfatase, pregnenolone sulfatase, dehydroepiandrosterone sulfatase, and arylsulfatase C was observed in placental tissue.

    Findings:

    • Normal levels of arylsulfatases A and B were present in the patient's placenta.
    • Dehydroepiandrosterone sulfatase activity was virtually absent in patient fibroblasts, distinguishing it from lysosomal sulfatase deficiencies.
    • The genetic and biochemical basis appears distinct from lysosomal sulfatase deficiency states.

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    Implications:

    • The defect is generalized, detectable in mid-trimester pregnancy.
    • Potential for phenotypic consequences in later postnatal life.
    • Highlights the crucial role of placental steroid sulfatase in pregnancy and development.