title: Cat-eye syndrome with isolated idiopathic hypogonadotropic hypogonadism.
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.
authors.affiliation: Department of Medicine II, Hokkaido University Graduate School of Medicine, Sapporo.
authors.forename: Ryusuke
authors.initials: R
authors.lastname: Matsumoto
authors.forename: Chikara
authors.initials: C
authors.lastname: Shimizu
authors.forename: So
authors.initials: S
authors.lastname: Nagai
authors.forename: Satoshi
authors.initials: S
authors.lastname: Taniguchi
authors.forename: Masaaki
authors.initials: M
authors.lastname: Umetsu
authors.forename: Yasunori
authors.initials: Y
authors.lastname: Kimura
authors.forename: Toshiya
authors.initials: T
authors.lastname: Atsumi
authors.forename: Narihito
authors.initials: N
authors.lastname: Yoshioka
authors.forename: Mitsumasa
authors.initials: M
authors.lastname: Kubo
authors.forename: Takao
authors.initials: T
authors.lastname: Koike
mesh_terms: D000328:Adult; D001006:Anus, Imperforate / Q000150:complications* / Q000235:genetics; D002892:Chromosomes, Human, Pair 22; D003103:Coloboma / Q000150:complications* / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000150:complications* / Q000235:genetics; D007621:Karyotyping; D008297:Male; D013577:Syndrome; D014314:Trisomy