Serum steroid sulphates in ichthyosis

Abstract

Serum concentrations of pregnenolone sulphate, dehydroepiandrosterone sulphate and 5-androstene-3 beta,17 beta-diol sulphate were measured by radioimmunoassays in twelve patients with various types of ichthyosis. In X-linked ichthyosis (n = 5), ichthyosis vulgaris (n = 5) and lamellar ichthyosis (n = 1), steroid sulphates were not significantly higher than in the control subjects. In one baby with ichthyosiform erythroderma and associated deafness serum 5 -androstene-3 beta,17 beta-diol sulphate concentration was about 60 fold higher (31 microgram/ml) than the mean of the control children. The other steroid sulphate levels were normal in this baby. These results indicate that it is not possible to demonstrate the steroid sulphatase deficiency in X-linked ichthyosis by determining blood steroid sulphates. The cause of the high 5-androstene-3 beta,17 beta-diol sulphate concentration in the baby with ichthyosiform erythroderma needs further evaluation.

Stratum corneum lipids in disorders of cornification: increased cholesterol sulfate content of stratum corneum in recessive x-linked ichthyosis.

“…Since the quantity of cholesterol sulfate in RXLI scale (>1% of total stratum corneum weight) far exceeds the levels detected in RXLI plasma, it is likely that the observed accumulation of cholesterol sulfate in scale is a direct result of epidermal biosynthetic activity, rather than merely a passive reflection of increased plasma choles- terol sulfate content. On the other hand, serum levels of sulfated steroid hormones do not appear to be altered in RXLI patients (25), and therefore it is less likely that sulfated steroid hormones play a role in the pathogenesis of this disorder.…”

Cholesterol sulphate in the microsomal sulphatase deficient placenta

“…The disorder is due to deficiency of a single enzyme or a group of closely related microsomaI enzymes responsible for the desulphation of cholesterol sulphate and a series of sulphated steroid hormones (Rose, 1982). Whereas the disorder was first recognized through its effects on sulphated steroid hormone metabolism prenatally, repeated attempts to demonstrate elevated levels of sulphated steroid hormones after the neonatal period have been unsuccessful (Ruokonen et al, 1980;Bergner and Shapiro, 1981). Instead accumulation postnatally of another substrate, cholesterol sulphate, has been demonstrated in blood Bergner and Shapiro, 1981), and within the pathological scale (Williams and Elias, 1981).…”

“…In PSD this first step is lacking, resulting in extremely low urinary oestrogen excretion during these pregnancies (France and Liggins, 1969), together with high urinary excretion of 313-hydroxy-A 5 steroid sulphates especially 16x-hydroxy-DHEAS (Wolthers et al, 1978;Phillipou et al, 1979;Taylor and Shackleton, 1979;H~ihnel et al, 1982), but not DHEAS. Postnatally, serum DHEAS (Ruokonen et al, 1980;Bergner and Shapiro, 1981;, pregnenolone sulphate, and 5-androstene-313,1713-diol sulphate (Ruokonen et al, 1980) levels are normal but accumulations of another substrate, cholesterol sulphate, have been demonstrated in blood Bergner and Shapiro, 1981), erythrocyte membrane (Bergner and Shapiro, 1981), and in skin stratum corneum (Williams and Elias, 1981). Accumulation of the enzyme's substrate within the ichthyotic scale has provided a strong indication of a direct role of microsomal sulphatase deficiency in the pathogenesis of RXLI.…”

High levels of oxysterol sulfates in serum of patients with steroid sulfatase deficiency

“…In blood, most studies have reported that DHEAS concentration is similar in RXLI patients and in healthy people (8)(9)(10)(11)(12). The fact that DHEAS is not as elevated in RXLI patients as would be expected, points to the existence of an auxiliary STS activity different than STS.…”