To use all functions of this page, please activate cookies in your browser.
With an accout for my.bionity.com you can always see everything at a glance – and you can configure your own website and individual newsletter.
- My watch list
- My saved searches
- My saved topics
- My newsletter
X-linked ichthyosis is an inborn error of metabolism characterized by a deficiency in microsomal sulfatase (steroid sulfatase). It is also referred to as placental sulfatase deficiency.
Additional recommended knowledge
The genetic locus for the steroid sulfatase gene has been mapped to the distal short arm of the x chromosome (Xp22.32). Affected individuals, usually male, develop ichthyosis in the form of hyperkeratosis after birth, sometimes associated with pyloric stenosis, cryptorchism, or corneal opacities.
Prenatally, the condition affects placental estrogen production, as precursor steroids from the male fetus are not fully utilized due to difficulty in removing their sulfate group. Estriol levels during pregnancy are low. Pregnancies may be complicated by an inability to go into spontaneous labor.
|This article is licensed under the GNU Free Documentation License. It uses material from the Wikipedia article "X-linked_ichthyosis". A list of authors is available in Wikipedia.|