699 increased cholesterol sulfate in plasma and red blood cell membranes of steroid sulfatase (sts) deficient patients

ABSTRACT STS deficiency is an inborn error of metabolism due to a relatively common mutation on the short arm of the X chromosome. The phenotype of affected individuals includes decreased

estriol production during fetal life and ichthyosis postnatally. Although increased levels of several steroid sulfates have been observed in amniotic fluid, maternal urine, and cord blood

from such pregnancies, no consistent substrate abnormalities have been found beyond the perinatal period. Specifically, normal radioimmunoassayable plasma pregnenolone sulfate (PS),

dehydroepiandrosterone sulfate (DS), and androstenediol sulfate (AS) have been reported. Utilizing gas chromatography (GC), we have found cholesterol sulfate (CS) to be strikingly elevated

in plasma and red blood cell membranes of patients with STS deficiency. 80% methanol extracts were purified by solvent partition and TLC, subjected to solvolysis and quantitated by GC.

Recoveries were monitored with 3H-CS. High levels of CS with normal levels of PS, DHEAS, and AS may indicate that desulfation is quantitatively more important for CS than for the other

steroid sulfates. CS is known to affect membrane stability and the present observations may help to explain the pathogenesis of STS deficiency and X-linked ichthyosis. ARTICLE PDF AUTHOR

INFORMATION AUTHORS AND AFFILIATIONS * Division of Medical Genetics, Harbor-UCLA Medical Center, Torrance, CA. E Anne Bergner & Larry J Shapiro Authors * E Anne Bergner View author

publications You can also search for this author inPubMed Google Scholar * Larry J Shapiro View author publications You can also search for this author inPubMed Google Scholar RIGHTS AND

PERMISSIONS Reprints and permissions ABOUT THIS ARTICLE CITE THIS ARTICLE Bergner, E., Shapiro, L. 699 INCREASED CHOLESTEROL SULFATE IN PLASMA AND RED BLOOD CELL MEMBRANES OF STEROID

SULFATASE (STS) DEFICIENT PATIENTS. _Pediatr Res_ 15 (Suppl 4), 558 (1981). https://doi.org/10.1203/00006450-198104001-00722 Download citation * Issue Date: 01 April 1981 * DOI:

https://doi.org/10.1203/00006450-198104001-00722 SHARE THIS ARTICLE Anyone you share the following link with will be able to read this content: Get shareable link Sorry, a shareable link is

not currently available for this article. Copy to clipboard Provided by the Springer Nature SharedIt content-sharing initiative