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Metabolism of 3 H‐dehydroepiandrosterone sulphate by subjects with steroid sulphatase deficiency
Author(s) -
Bergner E. A.,
Shapiro L. J.
Publication year - 1988
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf01800429
Subject(s) - dehydroepiandrosterone , endocrinology , medicine , metabolism , steroid , chemistry , steroid sulfatase , dehydroepiandrosterone sulfate , metabolic disease , human genetics , biology , biochemistry , androgen , hormone , gene
Summary Patients with steroid sulphatase deficiency develop ichthyosis with accumulation of cholesterol sulphate in plasma and in the stratum corneum. The present study was undertaken to determine whether desulphation of the C19 steroid DHEAS is also impaired. The mean plasma concentrations of DHEA and androstenedione were significantly lower for patients than for controls ( p <0.02 and 0.001) while the mean concentration of DHEAS was higher ( p <0.002). Following intravenous administration of 3 H‐DHEAS, one patient failed to desulphate 3 H‐DHEAS as evidenced by an absence of urinary 3 H‐glucuronides. A second produced normal amounts of urinary 3 H‐glucuronides (indicative of desulphation capacity) in a baseline study but did not desulphate 3 H‐DHEAS following ampicillin treatment to alter gut microflora. A third patient had consistent sulphatase activity with and without ampicillin.