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Kennedy病雄激素不敏感表现研究进展

Research progress of androgen insensitivity in Kennedy disease

  • 摘要: Kennedy病也称脊髓延髓性肌肉萎缩,是X连锁隐性遗传性疾病,是雄激素受体基因第一外显子内三核苷酸胞嘧啶-腺嘌呤-鸟嘌呤重复序列异常增多导致的一种神经系统变性疾病。该病主要症状为肌无力和肌萎缩,累及四肢近端肌肉及延髓肌,可伴有男性乳房发育、性功能减退等雄激素不敏感表现。由于患病率较低,临床医生对该病认识不足,特别是对患者雄激素不敏感表现认识不足,易造成误诊及诊断延误。本文对Kennedy病患者的雄激素不敏感表现作一综述,以加强临床医师对该病的认识。

     

    Abstract: Kennedy disease, also known as spinal and bulbar muscular atrophy, is a recessive X-linked genetic disease caused by the abnormal increase of cytosine-adenine-guanine repeat sequence in the first exon of the androgen receptor gene. The main symptoms are muscle weakness and atrophy, involving the bulbar muscles and proximal muscles of the extremities, which may be accompanied by androgen insensitivity such as gynecomastia and sexual dysfunction. Due to the low prevalence rate, clinicians have an insufficient understanding of the disease, especially the androgen insensitivity of patients, which easily leads to misdiagnosis and delay in diagnosis. In this paper, the appearance of androgen insensitivity in Kennedy disease patients was discussed to strengthen the clinicians' understanding of the disease.

     

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