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Case Reports
. 2005 Oct;44(10):1069-73.
doi: 10.2169/internalmedicine.44.1069.

Cat-eye syndrome with isolated idiopathic hypogonadotropic hypogonadism

Ryusuke Matsumoto  1 , Chikara Shimizu, So Nagai, Satoshi Taniguchi, Masaaki Umetsu, Yasunori Kimura, Toshiya Atsumi, Narihito Yoshioka, Mitsumasa Kubo, Takao Koike
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Free article
Case Reports

Cat-eye syndrome with isolated idiopathic hypogonadotropic hypogonadism

Ryusuke Matsumoto et al. Intern Med. 2005 Oct.
Free article

Abstract

A 34-year-old Japanese man diagnosed as having cat-eye syndrome (CES) with isolated idiopathic hypogonadotropic hypogonadism (IHH) was treated at our university. He showed preauricular pits/tags, downward slanting palpebral fissures, ocular hypertelorism, and strabismus. However, ocular coloboma and anal atresia, major characteristic features of CES, were negative. Chromosomal analysis revealed malformation in chromosome 22 and eunuchoid features and a low grade development of secondary sexual characteristics were also evident. Endocrinological examinations revealed that this patient was in a state of isolated IHH. Although CES with IHH is extremely rare, endocrine disorders should be given due attention.

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