Skip to main content
Log in

Excretion of (sulfated) steroids in the urine and excretion of cholesterol sulfate in the feces of boys with recessive X-linked ichthyosis

  • Original Contributions
  • Published:
Archives of Dermatological Research Aims and scope Submit manuscript

Summary

The excretion of sulfated steroids was investigated in the urine and feces of six boys aged 9 months to 7 years and 10 months who had recessive X-linked ichthyosis. Profiles of urinary total steroids as well as sulfated steroids were normal. Cholesterol sulfate excretion in the urine was not elevated. In the feces 2–20% of total cholesterol was cholesterol sulfate, whereas in the feces of 28 healthy children no cholesterol sulfate was demonstrable. In the 6 patients total cholesterol excretion (500–2,500 μmol/kg feces) was also elevated in comparison with the 28 healthy controls (150–700 μmol/kg feces, mean 365 μmol/kg feces)

This is a preview of subscription content, log in via an institution to check access.

Access this article

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Similar content being viewed by others

References

  1. Austin JH, Denver MD (1973) Studies in metachromatic leucodystrophy. XII. Multiple sulfatase deficiency. Arch Neurol 28:258–264

    Google Scholar 

  2. Baden HP, Hooker PA, Kubilus J, Tarascio A (1980) Sulfatase activity of keratinizing tissues in X-linked ichthyosis. Pediatr Res 14:1347–1348

    Google Scholar 

  3. Bedin M, Tanguy G, Cédard L, Cleophax JP, Lesne M, Blanchet-Bardon C, Briard ML (1979) Deficit en sulfatase placentaire et ichthyose récessive liée au sexe. Deux cas observés chez deux soeurs. J Gynecol Obstet Biol Reprod 8:533–537

    Google Scholar 

  4. Bedin M, Alsat E, Tanguy C, Cédard L (1980) Placental sulfatase deficiency: clinical and biochemical study of 16 cases. Eur J Obstet Gynaecol Reprod Biol 10:21–34

    Google Scholar 

  5. Bergner EA, Shapiro LJ (1981) Increased cholesterol sulfate in plasma and red blood cell membranes of steroid sulfatase deficient patients. J Clin Endocrinol Metab 53:221–223

    Google Scholar 

  6. Eneroth P, Nyström E (1968) Quantification of cholesterylsulfate and neutral sterol derivatives in human feces after purification on lipophilic sephadex gels. Steroids 11:187–205

    Google Scholar 

  7. Epstein EH, Kraus RM, Shackleton CHL (1981) X-linked ichthyosis: increased blood cholesterol sulfate and electrophoretic mobility of low-density lipoprotein. Science 214:659–660

    Google Scholar 

  8. France JT (1981) Placental sulfatase deficiency. In: Scarpelli EM, Cosmi EV (eds) Reviews in perinatal medicine, vol 4. Raven Press, New York, pp 247–272

    Google Scholar 

  9. France JT, Liggins GC (1969) Placental sulfatase deficiency. J Clin Endocrinol Metab 29:138–141

    Google Scholar 

  10. Groot WP de, Jöbsis AC, Marinkovic-Ilsen A, Koppe JG, Bruyn HWA de (1980) Sex-linked ichthyosis and placental sulfatase C deficiency. Br J Dermatol 103:73–79

    Google Scholar 

  11. Gurpide E, Roberts KD, Welch MT, Bandy L, Lieberman S (1966) Studies on the metabolism of blood-borne cholesterol sulfate. Biochemistry 5:3352–3362

    Google Scholar 

  12. Gustafsson JA, Sjövall J (1969) Identification of 22-, 24-and 26-hydroxy-cholesterol in the steroid sulphate fraction of faeces from infants. Eur J Biochem 8:467–472

    Google Scholar 

  13. Hähnel R, Hähnel E, Wysocki SJ, Wilkinson SP, Hockey A (1982) Prenatal diagnosis of X-linked ichthyosis. Clin Chim Acta 120:143–152

    Google Scholar 

  14. Jöbsis AC, Duuren CY van, Vries GP de, Koppe JG, Rijken Y, Kempen GMJ van, Groot WP de (1976) Trophoblast sulphatase deficiency associated with X-chromosomal ichthyosis. Ned Tijdschr Geneeskd 120:1980

    Google Scholar 

  15. Jöbsis AC, Groot WP de, Tigges AJ, Bruyn HWA de, Rijken Y, Meyer AEFH, Marinkovic-Ilsen A (1980) X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Am J Pathol 99:279–280

    Google Scholar 

  16. Koppe JG, Rijken Y, Jöbsis AC, Marinkovic-Ilsen A (1977) X-linked ichthyosis, a sulfatase deficiency. Excerpta Med Int Congr Ser 426:57

    Google Scholar 

  17. Koppe JG, Marinkovic-Ilsen A, Rijken Y, Groot WP de, Jöbsis AC (1978) X-linked ichthyosis. A sulfatase deficiency. Arch Dis Child 53:803–806

    Google Scholar 

  18. Leunissen WJJ, Thijssen JHH (1978) Quantitative analysis of steroid profiles in urine by capillary gas chromatography. J Chromatogr 146:365–380

    Google Scholar 

  19. Marinkovic-Ilsen A (1983) Placental sulfatase deficiency and recessive X-linked ichthyosis. Thesis, Amsterdam, University of Amsterdam

    Google Scholar 

  20. Miettinen TA, Ahrens EH, Grundy SM (1965) Quantitative isolation and gas-liquid chromatographic analysis of dietary and fecal neutral steroids. J Lipid Res 6:411–423

    Google Scholar 

  21. Moser HW, Moser AB, Orr JC (1966) Preliminary observations on the occurrence of cholesterol sulfate in man. Biochim Biophys Acta 116:146–155

    Google Scholar 

  22. Murphy KV Wolfe HJ, Balazs EA, Moser HW (1971) A patient with deficiency of arylsulfatases A, B, C, and steroid sulfatase, associated with storage of sulfatide, cholesterolsulfate and glycosaminoglycans. In: Bernsohn J, Grossman HJ (eds) Lipid storage diseases. Academic Press, New York London, pp 67–110

    Google Scholar 

  23. Muskiet FAJ, Jansen G, Wolthers BG, Marinkovic-Ilsen A, Van Voorst Vader PC (1983) Rapid gas chromatographic determination of cholesterol sulfate in plasma and erythrocytes for the diagnosis of X-linked ichthyosis. Clin Chem 29:1404–1407

    Google Scholar 

  24. Phillipou G, Seamark RF, Sweet R (1979) Prenatal diagnosis of placental sulphatase deficiency. Aust NZJ Obstet Gynaecol 19:233–236

    Google Scholar 

  25. Roberts KD, Lieberman S (1970) The biochemistry of the 3β-hydroxy-Δ 5-steroid sulfates. In: Bernstein S, Solomon S (eds) Chemical and biological aspects of steroid conjugation. Springer, Berlin Heidelberg New York, pp 219–290

    Google Scholar 

  26. Ruokonen A, Oikarinen A (1981) Steroid sulphatase activity in the skin biopsies of various types of ichthyosis. Br J Dermatol 105:291–295

    Google Scholar 

  27. Shapiro LJ, Cousins L, Fluharty AL, Stevens RL, Kihara H (1977) Steroid sulfatase deficiency. Pediatr Res 11:894–897

    Google Scholar 

  28. Shapiro LJ, Weiss R, Webster D, France JT (1978) X-linked ichthyosis due to steroid sulfatase deficiency. Lancet I: 70–72

    Google Scholar 

  29. Taylor NF (1982) Review: Placental sulphatase deficiency. J Inherit Dis 5:164–176

    Google Scholar 

  30. Taylor NF, Shackleton HL (1979) Gas chromatographic steroid analysis for diagnosis of placental sulfatase deficiency: a study of nine patients. J Clin Endocrinol Metab 49:78–86

    Google Scholar 

  31. Williams ML, Elias PM (1981) X-linked ichthyosis: elevated cholesterol sulfate in pathological stratum corneum. Clinical Research 19:26A

    Google Scholar 

  32. Williams ML, Grayson S, Bonifas JM, Epstein EH, Elias PM (1983) Epidermal cholesterol sulfate and steroid sulfatase activity and recessive X-linked ichthyosis. In: Marks R, Plewid O (eds) The stratum. Springer, Berlin Heidelberg New York, pp 79–85

    Google Scholar 

  33. Winter JSD, Bongiovanni AM (1968) Identification of cholesterol sulfate in urine and plasma of normal and hypercholesterolemic subjects. J Clin Endocrinol Metab 28:927–930

    Google Scholar 

  34. Wolthers BG, Meulen J van der, Groen A (1978) Ervaringen met de gaschromatografische profilering van steroiden in de urine (experiences with gas chromatographic profilation of steroids in urine). Tijdschr Ned Ver v Klin Chemie 3:325–337

    Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Rights and permissions

Reprints and permissions

About this article

Cite this article

Marinkovic-Ilsen, A., van den Ende, A. & Wolthers, B.G. Excretion of (sulfated) steroids in the urine and excretion of cholesterol sulfate in the feces of boys with recessive X-linked ichthyosis. Arch Dermatol Res 276, 364–369 (1984). https://doi.org/10.1007/BF00413356

Download citation

  • Received:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF00413356

Key words

Navigation