Hattori T, Ikeda S, Yoshida K, Yanagisawa N, Furihata K, Yoshida K
Department of Medicine, Shinshu University School of Medicine, Matsumoto, Japan.
Rinsho Shinkeigaku. 1995 Nov;35(11):1246-9.
A 31-year-old man with a history of progressive muscular atrophy and weakness from around 22 years of age, recently experienced arrhythmia. On examination he showed gynecomastia and slight proximal weakness in both upper and lower extremities. Androgen receptor gene analysis showed an increased number of tandem CAG repeats in exon 1, thus leading to a diagnosis of Kennedy-Alter-Sung (KAS) syndrome. Cardiological investigations including echocardiography, scintigraphy and catheterization disclosed dilated cardiomyopathy. Cardiac muscle biopsy showed myocardial cell degeneration. KAS syndrome is causatively related to androgen receptor gene abnormality. This receptor is widely distributed throughout human body, including the genital tract, spinal cord, liver, and heart. Androgen receptor dysfunction may induce cardiac muscle involvement in patients with KAS syndrome, producing the previously unknown pathophysiology of cardiomyopathy.
一名31岁男性，自22岁左右起有进行性肌肉萎缩和无力病史，近期出现心律失常。检查发现他有男性乳房发育，上下肢均有轻度近端肌无力。雄激素受体基因分析显示外显子1中串联CAG重复序列数量增加，从而诊断为肯尼迪-奥尔特-宋（KAS）综合征。包括超声心动图、闪烁扫描和心导管检查在内的心脏检查发现扩张型心肌病。心肌活检显示心肌细胞变性。KAS综合征与雄激素受体基因异常有因果关系。该受体广泛分布于人体全身，包括生殖道、脊髓、肝脏和心脏。雄激素受体功能障碍可能导致KAS综合征患者出现心肌受累，产生此前未知的心肌病病理生理学机制。
