1. Cat-eye Syndrome with Isolated Idiopathic Hypogonadotropic Hypogonadism
- Author
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Toshiya Atsumi, So Nagai, Mitsumasa Kubo, Takao Koike, Narihito Yoshioka, Chikara Shimizu, Ryusuke Matsumoto, Satoshi Taniguchi, Yasunori Kimura, and Masaaki Umetsu
- Subjects
Adult ,Male ,medicine.medical_specialty ,genetic structures ,Chromosomes, Human, Pair 22 ,Trisomy ,Hypothalamic disease ,Anus, Imperforate ,Hypogonadotropic hypogonadism ,Internal Medicine ,medicine ,Humans ,Hypertelorism ,Strabismus ,business.industry ,Hypogonadism ,Syndrome ,General Medicine ,Anatomy ,medicine.disease ,Dermatology ,eye diseases ,Cat eye syndrome ,Coloboma ,body regions ,Anal atresia ,Karyotyping ,sense organs ,medicine.symptom ,business ,Chromosome 22 - 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.
- Published
- 2005