Increased levels of DHEAS in serum of patients with X-linked ichthyosis

Autor: Salvatore M. Aloj, G. M. P. Illiano, A. Milone, Maurizio Bifulco, A. Piccirillo, M. Delfino
Rok vydání: 1991
Předmět:
Zdroj: Journal of inherited metabolic disease. 14(1)
ISSN: 0141-8955
Popis: The metabolic basis of X-linked ichthyosis is a deficiency of steroid sulphatase, a microsomal enzyme which removes sulphate groups from sulphated steroids. We report on a carefully controlled group of 15 patients with recessive X-linked ichthyosis, selected in a narrow age range (22–33 years), in whom, through the use of gas chromatographic analysis and conventional radioimmunoassay, we have measured not only elevated serum cholesterol sulphate levels but also significantly elevated serum dehydroepiandrosterone sulphate levels. The latter finding has been controversial in previous reports. We believe that the radioimmunoassay procedure generally used should be held responsible for such controversy since it often gives rise to false positive and/or false negative values. Gas chromatography, although more exacting, appears to be far more reliable for the assessment of elevated serum dehydroepiandrosterone.
Databáze: OpenAIRE