A congenital deficiency in the enzyme is associated with X-linked ichthyosis, a scaly-skin disease affecting roughly 1 in every 2,000 to 6,000 males. The excessive skin scaling and hyperkeratosis is caused by a lack of breakdown and thus accumulation of cholesterol sulfate, a steroid that stabilizes cell membranes and adds cohesion, in the outer layers of the skin.
Genetic deletions including STS are associated with an increased risk of developmental and mood disorders (and associated traits), and of atrial fibrillation or atrial flutter in males. Both steroid sulfatase deficiency and common genetic risk variants within STS may confer increased atrial fibrillation risk.
Steroid sulfates like DHEA sulfate and estrone sulfate serve as large biologically inert reservoirs for conversion into androgens and estrogens, respectively, and hence are of significance for androgen- and estrogen-dependent conditions like prostate cancer, breast cancer, endometriosis, and others. A number of clinical trials have been performed with inhibitors of the enzyme that have demonstrated clinical benefit, particularly in oncology and so far up to Phase II. The non-steroidal drug Irosustat has been the most studied to date.
Steryl-sulfatase is also known as arylsulfatase, steroid sulfatase, sterol sulfatase, dehydroepiandrosterone sulfate sulfatase, arylsulfatase C, steroid 3-sulfatase, steroid sulfate sulfohydrolase, dehydroepiandrosterone sulfatase, pregnenolone sulfatase, phenolic steroid sulfatase, 3-beta-hydroxysteroid sulfate sulfatase, as well as by its systematic namesteryl-sulfate sulfohydrolase.
^Roy AB (1960). "The synthesis and hydrolysis of sulfate esters". Advances in Enzymology and Related Areas of Molecular Biology. Advances in Enzymology and Related Subjects of Biochemistry. Advances in Enzymology - and Related Areas of Molecular Biology. Vol. 22. pp. 205–35. doi:10.1002/9780470122679.ch5. ISBN9780470122679. PMID13744184.
Shankaran R, Ameen M, Daniel WL, Davidson RG, Chang PL (June 1991). "Characterization of arylsulfatase C isozymes from human liver and placenta". Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology. 1078 (2): 251–7. doi:10.1016/0167-4838(91)90566-I. PMID2065092.
Kawano J, Kotani T, Ohtaki S, Minamino N, Matsuo H, Oinuma T, Aikawa E (August 1989). "Characterization of rat and human steroid sulfatases". Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology. 997 (3): 199–205. doi:10.1016/0167-4838(89)90187-8. PMID2765556.
Yen PH, Allen E, Marsh B, Mohandas T, Wang N, Taggart RT, Shapiro LJ (May 1987). "Cloning and expression of steroid sulfatase cDNA and the frequent occurrence of deletions in STS deficiency: implications for X-Y interchange". Cell. 49 (4): 443–54. doi:10.1016/0092-8674(87)90447-8. PMID3032454. S2CID23353934.
Conary JT, Lorkowski G, Schmidt B, Pohlmann R, Nagel G, Meyer HE, et al. (April 1987). "Genetic heterogeneity of steroid sulfatase deficiency revealed with cDNA for human steroid sulfatase". Biochemical and Biophysical Research Communications. 144 (2): 1010–7. doi:10.1016/S0006-291X(87)80064-5. PMID3034252.
Ballabio A, Parenti G, Carrozzo R, Coppa G, Felici L, Migliori V, et al. (July 1988). "X/Y translocation in a family with X-linked ichthyosis, chondrodysplasia punctata, and mental retardation: DNA analysis reveals deletion of the steroid sulphatase gene and translocation of its Y pseudogene". Clinical Genetics. 34 (1): 31–7. doi:10.1111/j.1399-0004.1988.tb02612.x. PMID3165728. S2CID39954996.
Yen PH, Marsh B, Allen E, Tsai SP, Ellison J, Connolly L, et al. (December 1988). "The human X-linked steroid sulfatase gene and a Y-encoded pseudogene: evidence for an inversion of the Y chromosome during primate evolution". Cell. 55 (6): 1123–35. doi:10.1016/0092-8674(88)90257-7. PMID3203382. S2CID42065481.
Müller CR, Wahlström J, Ropers HH (1982). "Further evidence for the assignment of the steroid sulfatase X-linked ichthyosis locus to the telomer of Xp". Human Genetics. 58 (4): 446–447. doi:10.1007/bf00282842. PMID6948769. S2CID23372914.
Matsuoka R, Yanaihara A, Saito H, Furusawa Y, Toma Y, Shimizu Y, et al. (June 2002). "Regulation of estrogen activity in human endometrium: effect of IL-1β on steroid sulfatase activity in human endometrial stromal cells". Steroids. 67 (7): 655–9. doi:10.1016/S0039-128X(02)00016-8. PMID11996939. S2CID11872655.