Absence of testicular steroid sulphatase activity in a boy with recessive X-linked ichthyosis and testicular maldescent.
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.
Lykkesfeldt
G
G
Müller
J
J
Skakkebaek
N E
NE
Bruun
E
E
Lykkesfeldt
A E
AE
D000293:Adolescent; D003456:Cryptorchidism / Q000150:complications* / Q000201:enzymology; D005808:Genes, Recessive; D006801:Humans; D007057:Ichthyosis / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D008297:Male; D043266:Steryl-Sulfatase; D013429:Sulfatases / Q000378:metabolism*; D013737:Testis / Q000201:enzymology*; D014960:X Chromosome
D013429:Sulfatases; D043266:Steryl-Sulfatase