Article
Hypogonadotrophic hypogonadism associated with prelingual deafness due to a connexin 26 gene mutation.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Feb 2002
Houang M, Gourmelen M, Moatti L, Le Bouc Y, Garabédian E N, Denoyelle F
Abstract excerpt
In Mediterranean countries, almost half the incidence of non-syndromic congenital hearing loss is caused by mutations in the gap junction (GJ) connexin 26 gene (GJB2/DFNB1 locus). In this form of deafness the cochlear defect is usually isolated. We describe here the first case of hypogonadotrophic hypogonadism in association with this particular cochlear defect. The male patient had moderate deafness inherited...
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