1例x连锁球脊髓神经病变雄激素结合降低及雄激素治疗的效果。

A Danek, T N Witt, K Mann, H U Schweikert, G Romalo, A R La Spada, K H Fischbeck
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引用次数: 17

摘要

x连锁隐性球脊髓神经病变是一种与肌萎缩侧索硬化症不同的运动神经元疾病,有效的治疗方法尚不清楚。患有x连锁隐性球脊髓神经病变的患者可能表现为男性乳房发育和睾丸萎缩,并且已经发现雄激素受体基因突变与该疾病有关。从雄激素受体异常到临床综合征的中间步骤尚未阐明。因此,我们研究了从x链隐性球脊髓神经病变患者培养的生殖皮肤成纤维细胞中雄激素([3H]双氢睾酮)与其特异性受体的结合,并证实了雄激素受体突变。结合力明显降低。我们用癸酸纳雄龙治疗患者6个月。在2年的随访中未观察到对其神经肌肉状态的影响。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Decrease in androgen binding and effect of androgen treatment in a case of X-linked bulbospinal neuronopathy.

X-linked recessive bulbospinal neuronopathy is a motoneuron disorder to be distinguished from amyotrophic lateral sclerosis, Effective treatment is not known. Patients with X-linked recessive bulbospinal neuronopathy may show gynecomastia and testicular atrophy, and a mutation in the androgen receptor gene has been found associated with the disease. Intermediate steps leading from the androgen receptor abnormality to the clinical syndrome have not yet been elucidated. Therefore, binding of androgen ([3H]dihydrotestosterone) to its specific receptor by genital skin fibroblasts cultured from a patient with X-linked recessive bulbospinal neuronopathy and confirmed androgen receptor mutation was studied. Markedly decreased binding capacity was found. We treated the patient for 6 months with nandrolone-decanoate. No effect on his neuromuscular status was observed during 2 years of follow-up.

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