Cat-eye syndrome with isolated idiopathic hypogonadotropic hypogonadism.
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.
Matsumoto
Ryusuke
R
Department of Medicine II, Hokkaido University Graduate School of Medicine, Sapporo.
Shimizu
Chikara
C
Nagai
So
S
Taniguchi
Satoshi
S
Umetsu
Masaaki
M
Kimura
Yasunori
Y
Atsumi
Toshiya
T
Yoshioka
Narihito
N
Kubo
Mitsumasa
M
Koike
Takao
T
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