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

Abstract

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.

• Authors: G Lykkesfeldt, J Müller, N E Skakkebaek, E Bruun, A E Lykkesfeldt
• Journal: European journal of pediatrics (Eur J Pediatr) Vol. 144 Issue 3 Pg. 273-4 (Sep 1985) ISSN: 0340-6199 [Print] Germany
• PMID: 2865141 (Publication Type: Case Reports, Journal Article)

Chemical References

• Sulfatases
• Steryl-Sulfatase

Topics

• Adolescent
• Cryptorchidism (complications, enzymology)
• Genes, Recessive
• Humans
• Ichthyosis (complications, enzymology, genetics)
• Male
• Steryl-Sulfatase
• Sulfatases (metabolism)
• Testis (enzymology)
• X Chromosome