Cat Eye Syndrome with Hypogonadotropic Hypogonadism
キーワード:
human chorionic gonadotropin (hCG)/human menopausal gonadotropin (hMG) therapy,
short stature
1998 年 37 巻 10 号 p. 853-856
詳細
1998 年 37 巻 10 号 p. 853-856
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.
(Internal Medicine 37: 853-856, 1998)
