Cat eye syndrome with hypogonadotropic hypogonadism.
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. Exogeneous gonadotropin replacement therapy combining human chorionic gonadotropin (hCG) and human menopausal gonadotropin (hMG) was started. As a result, the short stature and androgen deficiency were relieved. The critical region of CES was tetrasomy of 22 pter-->q11. Abnormalities of other chromosomes which cause hypogonadotropic hypogonadism may exist, thus further investigation is needed.
Masukawa
H
H
Department of Internal Medicine, Konan Showa Hospital, Nagoya.
Ozaki
T
T
Nogimori
T
T
D000015:Abnormalities, Multiple / Q000235:genetics*; D000293:Adolescent; D001006:Anus, Imperforate / Q000235:genetics; D006063:Chorionic Gonadotropin / Q000627:therapeutic use; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D004393:Dwarfism, Pituitary / Q000235:genetics; D006801:Humans; D007006:Hypogonadism / Q000188:drug therapy / Q000235:genetics*; D007018:Hypopituitarism / Q000188:drug therapy / Q000235:genetics*; D008297:Male; D008596:Menotropins / Q000627:therapeutic use; D010907:Pituitary Hormones / Q000097:blood / Q000172:deficiency; D011628:Puberty, Delayed / Q000188:drug therapy / Q000209:etiology; D013577:Syndrome; D013739:Testosterone / Q000097:blood / Q000172:deficiency; D014314:Trisomy
D006063:Chorionic Gonadotropin; D010907:Pituitary Hormones; D013739:Testosterone; D008596:Menotropins