Hypergonadotropic Hypogonadism in a 3-Yea r-Old Girl with Blepharophimosis, Ptosis, and Epicanthus inversus Syndrome

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Abstract
In the September issue of Hormone Research, Ogata et al. [1]describe a prepubertal patient with blepharophimosis, ptosis, and epicanthus inversus syndrome (type 1 BPES) with hypergonadotropic hypogonadism. Although the syndrome is subdivided into type 1 with infertility of affected females and type 2 with male and female autosomal dominant transmission, it is not known whether the two forms are allelic variants [2]. Both types are heterogeneous and have been linked to a 3q22–23 continuous gene deletion with larger deletions having more dysmorphic features, short stature, and mental retardation [2].