Excretion of (sulfated) steroids in the urine and excretion of cholesterol sulfate in the feces of boys with recessive X-linked ichthyosis
β Scribed by A. Marinkovic-Ilsen; A. Ende; B. G. Wolthers
- Publisher
- Springer-Verlag
- Year
- 1984
- Tongue
- English
- Weight
- 446 KB
- Volume
- 276
- Category
- Article
- ISSN
- 0340-3696
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β¦ Synopsis
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 gmol/kg feces) was also elevated in comparison with the 28 healthy controls (150-700 gmol/kg feces, mean 365 gmol/kg feces)
π SIMILAR VOLUMES
We present a 14-year-old boy with recessive X-linked ichthyosis in whom only one testis could be found. In this apparently normal testis, a lack of activity of the enzyme steroid sulphatase was demonstrated. Several male patients with recessive X-linked ichthyosis have been reported to have testicul
We have studied 16 men, from 10 unrelated Italian families, affected by steroid suphatase (STS) deficiency, which is the basic defect of X-linked ichthyosis (XLI). The patients' clinical diagnoses were of either isolated ichthyosis or ichthyosis associated with Kallmann syndrome (KS) (hypogonadotrop
## Abstract We observed a boy with short stature, chondrodysplasia punctata, ichthyosis, and a terminal deletion of Xp. Steroid sulfatase deficiency was demonstrated in the patient's fibroblasts. Molecular analysis showed a deletion of the entire steroid sulfatase gene. This case represents another