Internal Medicine
Online ISSN : 1349-7235
Print ISSN : 0918-2918
ISSN-L : 0918-2918
CASE REPORTS
Cat-eye Syndrome with Isolated Idiopathic Hypogonadotropic Hypogonadism
Ryusuke MATSUMOTOChikara SHIMIZUSo NAGAISatoshi TANIGUCHIMasaaki UMETSUYasunori KIMURAToshiya ATSUMINarihito YOSHIOKAMitsumasa KUBOTakao KOIKE
Author information
JOURNALS OPEN ACCESS

2005 Volume 44 Issue 10 Pages 1069-1073

Details
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.

Information related to the author
© 2005 by The Japanese Society of Internal Medicine
Previous article Next article
feedback
Top