title: High levels of oxysterol sulfates in serum of patients with steroid sulfatase deficiency.
abstract: Steroid sulfatase (STS) deficiency is the underlying cause of the skin condition known as recessive X-linked ichthyosis (RXLI). RXLI patients show scales on their skin caused by high concentrations of cholesterol sulfate (CS), as they are not capable of releasing the sulfate group from its structure to obtain free cholesterol. CS has been reported, so far, as the sole sulfated steroid with increased concentrations in the blood of RXLI patients. A non-targeted LC-MS approach in negative mode detection (LC-MS precursor ion scan mode) was applied to serum samples of 12 RXLI patients and 19 healthy males. We found that CS was not the only sulfated compound consistently elevated in RXLI patients, because a group of compounds with a m/z of 481 was found in high concentrations too. Further LC-MS/MS demonstrated that the main contributor to the m/z 481 signal in RXLI serum is 27-hydroxycholesterol-3-sulfate (27OHC3S). Accordingly, a new method for 27OHC3S quantification in the context of RXLI has been developed and validated. Other hydroxycholesterol sulfate compounds were elevated as well in RXLI patients.
authors.affiliation: Steroid Research and Mass Spectrometry Unit, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus-Liebig University, 35392 Giessen, Germany.
authors.forename: Alberto
authors.initials: A
authors.lastname: Sánchez-Guijo
authors.affiliation: Department of Dermatology, University of Münster, 48149 Münster, Germany.
authors.forename: Vinzenz
authors.initials: V
authors.lastname: Oji
authors.affiliation: Steroid Research and Mass Spectrometry Unit, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus-Liebig University, 35392 Giessen, Germany.
authors.forename: Michaela F
authors.initials: MF
authors.lastname: Hartmann
authors.affiliation: Clinic of Urology, Pediatric Urology and Andrology, Justus-Liebig-University, 35385 Giessen, Germany.
authors.forename: Hans-Christian
authors.initials: HC
authors.lastname: Schuppe
authors.affiliation: Department of Dermatology, University of Münster, 48149 Münster, Germany.
authors.forename: Heiko
authors.initials: H
authors.lastname: Traupe
authors.affiliation: Steroid Research and Mass Spectrometry Unit, Division of Pediatric Endocrinology and Diabetology, Center of Child and Adolescent Medicine, Justus-Liebig University, 35392 Giessen, Germany.
authors.forename: Stefan A
authors.initials: SA
authors.lastname: Wudy
mesh_terms: D002788:Cholesterol Esters / Q000097:blood*; D006801:Humans; D016114:Ichthyosis, X-Linked / Q000097:blood / Q000201:enzymology*; D008297:Male; D043266:Steryl-Sulfatase / Q000378:metabolism*; D053719:Tandem Mass Spectrometry
chemical_list: D002788:Cholesterol Esters; D043266:Steryl-Sulfatase; C007045:cholesteryl sulfate
keywords: liquid chromatography/mass spectrometry; recessive X-linked ichthyosis; steroid metabolism; sulfated steroids