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Cryptorchidism and hypogenitalism in X-linked recessive ichthyosis vulgaris

✍ Scribed by H. Traupe; H. H. Ropers


Publisher
Springer
Year
1982
Tongue
English
Weight
68 KB
Volume
60
Category
Article
ISSN
0340-6717

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πŸ“œ SIMILAR VOLUMES


Deletions of the steroid sulphatase gene
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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

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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