Placental steroid sulphatase deficiency.

Attenburrow, A A; Heslip, M; Henderson, M J; Holton, J B; Scott, Ian; Arthur, L J

doi:10.1136/adc.59.12.1187

Cited by 5 publications

(2 citation statements)

References 4 publications

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“…The very first clinical presentation of XLI may occur at birth because efficient desulfation of DHEAS and consequent conversion of DHEA to estrogens is important for cervical softening ( 211 ), which would be disrupted in STS deficiency. Thus, women carrying children affected by XLI have reported prolonged labor due to insufficient cervix dilatation (cervical dystocia) ( 204 , 212 , 213 )—a severe and unexpected birth complication where perinatal death has been reported ( 214 ). Prenatal diagnosis of STS deficiency is possible because maternal estrogen excretion is decreased, and hence characteristically low estriol is found.…”

Section: Disease-causing Mutations Affecting Steroid Sulfation Andmentioning

confidence: 99%

The Regulation of Steroid Action by Sulfation and Desulfation

et al. 2015

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Steroid sulfation and desulfation are fundamental pathways vital for a functional vertebrate endocrine system. After biosynthesis, hydrophobic steroids are sulfated to expedite circulatory transit. Target cells express transmembrane organic anion-transporting polypeptides that facilitate cellular uptake of sulfated steroids. Once intracellular, sulfatases hydrolyze these steroid sulfate esters to their unconjugated, and usually active, forms. Because most steroids can be sulfated, including cholesterol, pregnenolone, dehydroepiandrosterone, and estrone, understanding the function, tissue distribution, and regulation of sulfation and desulfation processes provides significant insights into normal endocrine function. Not surprisingly, dysregulation of these pathways is associated with numerous pathologies, including steroid-dependent cancers, polycystic ovary syndrome, and X-linked ichthyosis. Here we provide a comprehensive examination of our current knowledge of endocrine-related sulfation and desulfation pathways. We describe the interplay between sulfatases and sulfotransferases, showing how their expression and regulation influences steroid action. Furthermore, we address the role that organic anion-transporting polypeptides play in regulating intracellular steroid concentrations and how their expression patterns influence many pathologies, especially cancer. Finally, the recent advances in pharmacologically targeting steroidogenic pathways will be examined.

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Section: Disease-causing Mutations Affecting Steroid Sulfation Andmentioning

confidence: 99%

The Regulation of Steroid Action by Sulfation and Desulfation

et al. 2015

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“…However, such a link is plausible: in adult tissues, STS is most highly-expressed in the arterial vasculature ( GTEx Portal, 2021 ); the STS substrate, cholesterol sulfate, acts as an endogenous modulator of hemostasis ( Sanchez et al., 2021 ); and circulating levels of a second STS substrate, dehydroepiandrosterone sulfate, have been associated with thrombus formation under certain conditions ( Harrington et al., 2017 ; Roetker et al., 2018 ). Moreover, antepartum hemorrhage has been reported in a female carrier ( Attenburrow et al., 1984 ). It is also possible that the apparent increased risk of hematoma/hemorrhage in deletion carriers is simply a correlate of these individuals being exposed to more surgical procedures, or more invasive surgical procedures than noncarriers, for example, orchidopexy or emergency cesarean section.…”

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confidence: 99%