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Absence of testicular steroid sulphatase activity in a boy with recessive X-linked ichthyosis and testicular maldescent

✍ Scribed by G. Lykkesfeldt; J. Müller; N. E. Skakkebæk; E. Bruun; A. E. Lykkesfeldt

Publisher
Springer
Year
1985
Tongue
English
Weight
228 KB
Volume
144
Category
Article
ISSN
0340-6997

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✦ Synopsis

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 testicular diseases, and it is suggested that this may be related to the absence of testicular steroid sulphatase activity.

📜 SIMILAR VOLUMES

Deletions of the steroid sulphatase gene
Deletions of the steroid sulphatase gene in “classical” X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome
✍ A. Ballabio; G. Sebastio; R. Carrozzo; G. Parenti; A. Piccirillo; M. G. Persico; 📂 Article 📅 1987 🏛 Springer 🌐 English ⚖ 626 KB

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

Excretion of (sulfated) steroids in the
Excretion of (sulfated) steroids in the urine and excretion of cholesterol sulfate in the feces of boys with recessive X-linked ichthyosis
✍ A. Marinkovic-Ilsen; A. Ende; B. G. Wolthers 📂 Article 📅 1984 🏛 Springer-Verlag 🌐 English ⚖ 446 KB

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 elevate