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报道1个以性功能障碍为临床表现的经基因确诊的Kennedy病家系。对先证者家系进行调查，收集家系临床资料，行基因检测明确家系成员雄激素受体基因第一外显子CAG序列重复次数。该家系共有4例患者，先证者以男性乳房发育、性功能减退就诊于内分泌科，有肌肉颤动病史，其余3例以肌肉颤动、肌无力、肌肉萎缩、不育为主要临床表现。经基因检测的3例患者CAG重复次数均为53次。Kennedy病患者可因男性乳房发育或性功能减退就诊于内科，内科医师需加强对该病认识，对可疑该病者需行基因检测以明确诊断。“,”To report a genetic-confirmed family of Kennedy disease mainly manifested with sexual dysfunction. Pedigree investigation was performed, clinical material was collected and genetic analysis was performed to investigate the CAG repeats in the first exon of androgen receptor gene of the family member. Four patients were detected in the family, the proband visited the endocrinologist and complained about his gynecomastia and sexual dysfunction with muscular vibration history, and other patients in the family were mainly manifested with muscular vibration, muscular atrophy, weakness and infertility. The CAG repeats in the first exon of androgen receptor gene of the three patients who underwent gene analysis were 53. Patient with Kennedy disease may visit physicians and complain about gynecomastia or sexual dysfunction, physicians should consider Kennedy disease when making diagnosis and differentiation, and genetic test should be performed in order to make a definite diagnosis.