Cat-eye syndrome

Cat eye syndrome (CES) is a rare chromosomal disorder with a highly variable clinical presentation. Most patients have multiple malformations affecting the eyes (iris coloboma), ears (preauricular pits and/or tags), anal region (anal atresia), heart and kidneys. Intellectual disability is usually mild or borderline normal.

Hypogonadism

A decreased functionality of the gonad.


Total: 2

                       


(per page)
PMID (PMCID)
16293919
 MALE Adult
Cat-eye syndrome with isolated idiopathic hypogonadotropic hypogonadism.
Matsumoto R, Shimizu C, Nagai S, Taniguchi S, Umetsu M, Kimura Y, Atsumi T, Yoshioka N, Kubo M, Koike T.
Intern Med. 2005;44(10):1069-73.
A 34-year-old Japanese man diagnosed as having cat-eye syndrome (CES) with isolated idiopathic hypogonadotropic hypogonadism (IHH) was treated at our university.
9840707
 MALE
Cat eye syndrome with hypogonadotropic hypogonadism.
Masukawa H, Ozaki T, Nogimori T.
Intern Med. 1998;37(10):853-6.
A 17-year-old male diagnosed as having Cat Eye Syndrome (CES) with hypogonadotropic hypogonadism showed short stature and no development of secondary sex characteristics.