Steroid sulphatase deficiency: Identification of heterozygotes using hydrolysis of dehydroepiandrosterone sulphate by peripheral leucocytes

Annals of Clinical Biochemistry

Volumn 33, Issue 3, 1996, Pages 219-226

  Lowis, E I ^a   Oakey, R E ^b  

^a WEST CUMBERLAND HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

Thrombocytes; X chromosome inactivation; X linked recessive ichthyosis; glucuronidase

Indexed keywords

BETA GLUCURONIDASE; GLUCURONIDE; PRASTERONE SULFATE; STERYL SULFATASE;

ADULT; ARTICLE; ENZYME ACTIVITY; FEMALE; HETEROZYGOTE; HUMAN; HUMAN EXPERIMENT; HYDROLYSIS; ICHTHYOSIS; LEUKOCYTE; MALE; MONONUCLEAR CELL; PRIORITY JOURNAL;

EID: 0029888194     PISSN: 00045632     EISSN: None     Source Type: Journal    
DOI: 10.1177/000456329603300308     Document Type: Article

References (25)

1. France JT, Liggins GC. Placental sulfatase deficiency. J Clin Endocr Metab 1969; 29: 138-41
2. Jobsis AC, de Groot WP, Tigges AJ, de Bruin HWA, Rijken Y, Meijer AEFH, et al. X-linked ichthyosis and X-linked placental sulfatase deficiency: a disease entity. Am J Pathol 1980; 99: 279-90
3. Shapiro LJ, Weiss R, Webster D, France JT. X-linked ichthyosis due to steroid sulphatase deficiency. Lancet 1978; i: 70-2
4. Oakey RE. Antenatal detection of placental steroid sulphatase deficiency: use of a dehydroepiandrosterone sulphate loading test. Br J Obstet Gynaecol 1984; 91: 337-41
5. Selby C, Jeffcoate WN, Rose F, Taylor NF. A simple DHEAS loading test in the antepartum diagnosis of placental sulphatase deficiency. Clin Endocr 1984; 21: 155-61
6. Taylor NF, Shackleton CHL. Gas chromatographic steroid analysis for diagnosis of placental steroid sulphatase deficiency: a study of nine patients. J Clin Endocr Metab 1979; 49: 78-86
7. Wilmot RL, Mawson RJ, Oakey RE. Antenatal detection of placental steroid sulphatase deficiency by measurement of urinary 16α-hydroxydehydroepiandrosterone sulphate. Ann Clin Biochem 1988; 25: 155-61
8. Shapiro LJ, Weiss R, Buxman MM, Vidgoff J, Dimond RL, Roller JA, et al. Enzymatic basis of typical X-linked ichthyosis. Lancet 1978; ii: 756-7
9. Baden HP, Hooker PA, Kubilus J, Tarascio A. Sulfatase activity of keratinizing tissues in X-linked ichthyosis. Pediatr Res 1980; 14: 1347-8
10. Epstein EH, Leventhal ME. Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis. J Clin Invest 1981; 67: 1257-62
11. Lykkesfeldt G, Bock JE, Lykkesfeldt AE. Sex specific difference in placental steroid sulphatase activity. Lancet 1981; ii: 255-6
12. Shapiro LJ, Mohandas T, Weiss R, Romeo G. Non-inactivation of an X-chromosome locus in man. Science 1979; 204: 1224-6
13. Muller CR, Migl B, Ropers HH, Happle R. Heterozygote detection in steroid sulphatase deficiency. Lancet 1980; i: 546-7
14. Bedin M, Weil D, Fournier T, Cedard L, Frezal J. Biochemical evidence for the non-inactivation of the steroid sulfatase locus in human placenta and fibroblast. Hum Genet 1981; 59: 256-8
15. Jobsis AC, van der Loos CM, Walboomers JMM, de Groot WP. Recognising steroid sulphatase deficiency. BMJ 1984; 288: 233-4
16. Lykkesfeldt G, Lykkesfeldt AE. Carrier identification in steroid sulphatase deficiency and recessive X-linked ichthyosis. Acta Dermatol Venereol (Stockholm) 1986; 66: 134-8
17. Okano M, Kitano Y, Nakamura T, Matsuzawa Y. Detection of heterozygotes of X-linked ichthyosis by measuring steroid sulphatase activity of lymphocytes. Mode of inheritance in three families. Br J Dermatol 1985; 113: 645-9
18. Willems PJ, de Bruijn HWA, Groenhuis A, Mooyaart BR, Berger R. Partial Lyonisation of steroid sulphatase gene in single hair roots. J Inher Metab Dis 1986; 9: 156-62
19. Piraud M, Maire I, Zabot MT. X-linked recessive ichthyosis: enzymatic diagnosis of affected males and female carriers. Enzyme 1989; 41: 227-34
20. Herrmann FH, Grimm U, Hadlich J. Aryl sulphatase C activity in leukocytes of patients and carriers of X-linked ichthyosis. J Inher Metab Dis 1987; 10: 89-94
21. Han HD, Fencl M De M, Tulchinsky D. Variations in estrone sulfatase activity in human leukocytes. J Clin Endocr Metab 1987; 65: 1026-30
22. Jobsis AC, de Groot WP, Meijer AEFH, van der Loos CM. A new method for the determination of steroid sulphatase activity in leukocytes in X-linked recessive ichthyosis. Br J Dermatol 1983; 108: 567-72
23. Soliman HR, Dire D, Boudou P, Julien R, Launay J-M, Brerault J-L, et al. Characterisation of oestrone sulfatase activity in human thrombocytes. J Steroid Biochem Molec Biol 1993; 46: 215-26
24. Lykkesfeldt G. Human sulphatase deficiency. Danish Med Bull 1987; 34: 69-83
25. Fishman WH, Farlement MH. Effects of androgens and oestrogens on β-glucuronidase in inbred mice. Endocrinology 1953; 52: 536-45