Harada T, Ishizaki F, Yamamura Y, Tokunaga J, Kito S
Third Department of Internal Medicine, Hiroshima University School of Medicine, Japan.
No To Shinkei. 1989 Feb;41(2):143-8.
We reported a case with Kennedy-Alter-Sung syndrome (KAS) associated with bilateral external ophthalmoplegia. The patient had movement disturbance of bilateral infra-oblique muscles. The doll's eye phenomenon was not noted. It was suggested that the external ophthalmoplegia was due to the involvement of the oculomotor nucleus that innervated infra-oblique muscle. The serum levels of testosterone and gonadotropin were high, suggesting that the feminization of KAS patients was caused by androgen insensitivity. The feminization of KAS patients is similar to the incomplete form of testicular feminization syndrome except that they do not have feminization of genitals. Therefore, we proposed that abnormalities of androgen receptors might play a role in the pathogenesis of KAS. Fluoxymesterone therapy significantly improved the muscle weakness of the extremities of the patient, even though the therapeutic efficacy was shown temporarily. The therapeutic efficacy of fluoxymesterone for muscle weakness supports our hypothesis.
我们报告了一例伴有双侧眼外肌麻痹的肯尼迪-奥尔特-松综合征（KAS）病例。该患者双侧下斜肌存在运动障碍。未观察到娃娃眼现象。提示眼外肌麻痹是由于支配下斜肌的动眼神经核受累所致。睾酮和促性腺激素的血清水平较高，提示KAS患者的女性化是由雄激素不敏感引起的。KAS患者的女性化与睾丸女性化综合征的不完全形式相似，只是他们没有生殖器女性化。因此，我们提出雄激素受体异常可能在KAS的发病机制中起作用。氟甲睾酮治疗显著改善了患者四肢的肌无力，尽管治疗效果是暂时的。氟甲睾酮对肌无力的治疗效果支持了我们的假说。
