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)
Similar content being viewed by others
References
Austin JH, Denver MD (1973) Studies in metachromatic leucodystrophy. XII. Multiple sulfatase deficiency. Arch Neurol 28:258–264
Baden HP, Hooker PA, Kubilus J, Tarascio A (1980) Sulfatase activity of keratinizing tissues in X-linked ichthyosis. Pediatr Res 14:1347–1348
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
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
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
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
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
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
France JT, Liggins GC (1969) Placental sulfatase deficiency. J Clin Endocrinol Metab 29:138–141
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
Gurpide E, Roberts KD, Welch MT, Bandy L, Lieberman S (1966) Studies on the metabolism of blood-borne cholesterol sulfate. Biochemistry 5:3352–3362
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
Hähnel R, Hähnel E, Wysocki SJ, Wilkinson SP, Hockey A (1982) Prenatal diagnosis of X-linked ichthyosis. Clin Chim Acta 120:143–152
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
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
Koppe JG, Rijken Y, Jöbsis AC, Marinkovic-Ilsen A (1977) X-linked ichthyosis, a sulfatase deficiency. Excerpta Med Int Congr Ser 426:57
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
Leunissen WJJ, Thijssen JHH (1978) Quantitative analysis of steroid profiles in urine by capillary gas chromatography. J Chromatogr 146:365–380
Marinkovic-Ilsen A (1983) Placental sulfatase deficiency and recessive X-linked ichthyosis. Thesis, Amsterdam, University of Amsterdam
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
Moser HW, Moser AB, Orr JC (1966) Preliminary observations on the occurrence of cholesterol sulfate in man. Biochim Biophys Acta 116:146–155
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
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
Phillipou G, Seamark RF, Sweet R (1979) Prenatal diagnosis of placental sulphatase deficiency. Aust NZJ Obstet Gynaecol 19:233–236
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
Ruokonen A, Oikarinen A (1981) Steroid sulphatase activity in the skin biopsies of various types of ichthyosis. Br J Dermatol 105:291–295
Shapiro LJ, Cousins L, Fluharty AL, Stevens RL, Kihara H (1977) Steroid sulfatase deficiency. Pediatr Res 11:894–897
Shapiro LJ, Weiss R, Webster D, France JT (1978) X-linked ichthyosis due to steroid sulfatase deficiency. Lancet I: 70–72
Taylor NF (1982) Review: Placental sulphatase deficiency. J Inherit Dis 5:164–176
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
Williams ML, Elias PM (1981) X-linked ichthyosis: elevated cholesterol sulfate in pathological stratum corneum. Clinical Research 19:26A
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
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
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
Author information
Authors and Affiliations
Rights 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
Received:
Issue Date:
DOI: https://doi.org/10.1007/BF00413356