Hokezu Y, Yanai S, Nagai M, Nagamatsu K, Yamamoto Y
Department of Neurology, Oita Prefectural Hospital, Japan.
Rinsho Shinkeigaku. 1996 Mar;36(3):471-4.
We report a unique case of KAS syndrome presenting as hypersexuality and elevated serum creatine kinase (CK). None of the other members of the patient's family had KAS. The patient had engaged in sexual behavior 4 approximately 5 times a week since his marriage. He did not have gynecomastia or hepatomegaly. Neurological examination revealed facial twitching and tongue atrophy and fasciculations. Mild to moderate muscular atrophy and weakness were evident in the proximal portion of the upper and the distal portion of the lower extremities. Deep tendon reflexes were absent, as were sensory disturbance and sphincter dysfunction. Laboratory data showed mild elevation of transaminase (GOT 113 U/L, GPT 69 U/L) and extreme elevation of CK (4,600 U/L) in serum. Electromyography and muscle biopsy from the left biceps showed chronic neurogenic atrophy. Genetic analysis showed increased expansion of a CAG repeat (44 repeats) in exon 1 of the androgen receptor gene. We diagnosed KAS syndrome based on the genetic analysis. This case is important in illustrating the clinical varieties of KAS syndrome, as well as the importance of genetic analysis in KAS syndrome cases presenting with atypical manifestations and without a family history.
我们报告了一例表现为性欲亢进和血清肌酸激酶（CK）升高的KAS综合征的独特病例。患者家族中的其他成员均无KAS。该患者自结婚以来每周约有4至5次性行为。他没有乳腺增生或肝肿大。神经系统检查发现面部抽搐、舌萎缩和肌束震颤。上肢近端和下肢远端有轻度至中度肌肉萎缩和无力。无深腱反射，也无感觉障碍和括约肌功能障碍。实验室数据显示血清转氨酶轻度升高（谷草转氨酶113 U/L，谷丙转氨酶69 U/L），CK极度升高（4600 U/L）。左二头肌的肌电图和肌肉活检显示为慢性神经源性萎缩。基因分析显示雄激素受体基因外显子1中CAG重复序列增加（44次重复）。我们根据基因分析诊断为KAS综合征。该病例对于说明KAS综合征的临床多样性以及基因分析在表现不典型且无家族史的KAS综合征病例中的重要性具有重要意义。
