Associated Medical Conditions
Aside from the skin scaling, XLI is not typically associated with other major medical problems. Corneal opacities may be present but do not affect vision. Cryptorchidism is reported in some individuals. Mental retardation can also be seen in some affected individuals, and is thought to be due to deletions encompassing neighboring genes in addition to STS. Larger deletions that include the SHOX gene can result in short stature, while deletions that include the KAL1 gene lead to hypogonadotrophic hypogonadism as seen in Kallmann syndrome.
Female carriers generally do not experience any of these problems but rarely can have difficulty during childbirth, as the STS expressed in the placenta plays a role in normal labor. For this reason carriers should ensure their obstetrician is aware of the condition.
Read more about this topic: X-linked Ichthyosis
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