PDF(Pubmed)
Abstract：
UNASSIGNED: We report the sperm characteristics of a male patient who developed, when he was 18 years old, a Leber hereditary optic neuropathy, a hereditary optic neuropathy due to mtDNA mutation as well as variants in the nuclear DNA. At the age of 30 years-old, he complained of infertility lasting for 2 years. Semen analyses showed low motility spermatozoa and a high percentage of morphological or ultrastructural abnormalities. Levels of epididymal markers were strongly atypical. Idebenone was prescribed as treatment of his Leber hereditary optic neuropathy in order to improve his visual acuity. After 5 months of this treatment, motility of spermatozoa increased, and their vitality improved. A natural conception occurred.
UNASSIGNED: This case is the first description of an anomaly of spermatozoas and of the epididymis epithelium in a patient with Leber hereditary optic neuropathy. It draws attention to sperm pathologies in patients with mitochondrial disorders. The role of the mtDNA mutations must be suspected since it plays an important role in the development and motility of spermatozoa. In addition, idebenone can by-pass the complex I and transfer electrons to complex III. It has been suspected to have a favorable effect on spermatogenesis.
UNASSIGNED: This case confirms the possibility of sperm dysfunction in Leber hereditary optic neuropathy and the interest of idebenone as a treatment for infertility due to mtDNA mutations in human.
UNASSIGNED: This case is the first description of an anomaly of spermatozoas and of the epididymis epithelium in a patient with Leber hereditary optic neuropathy. It draws attention to sperm pathologies in patients with mitochondrial disorders. The role of the mtDNA mutations must be suspected since it plays an important role in the development and motility of spermatozoa. In addition, idebenone can by-pass the complex I and transfer electrons to complex III. It has been suspected to have a favorable effect on spermatogenesis.
UNASSIGNED: This case confirms the possibility of sperm dysfunction in Leber hereditary optic neuropathy and the interest of idebenone as a treatment for infertility due to mtDNA mutations in human.
摘要：
未经证实：我们报告了一名男性患者的精子特征，当他18岁的时候，Leber遗传性视神经病变,由mtDNA突变以及核DNA变异引起的遗传性视神经病变。在30岁的时候，他抱怨不孕症持续了2年。精液分析显示精子活力低，形态或超微结构异常的百分比高。附睾标记物的水平强烈不典型。艾地苯醌被规定为治疗他的Leber遗传性视神经病变，以提高他的视力。经过5个月的治疗，精子的运动性增加，他们的活力提高了。一个自然的概念发生了。
未经证实：该病例是Leber遗传性视神经病变患者精子和附睾上皮异常的首次描述。它提请注意线粒体疾病患者的精子病理。必须怀疑mtDNA突变的作用，因为它在精子的发育和运动中起着重要作用。此外,艾地苯醌可以绕过络合物I并将电子转移到络合物III。怀疑它对精子发生有有利作用。
UNASSIGNED：该病例证实了Leber遗传性视神经病变中精子功能障碍的可能性，以及艾地苯醌作为人类mtDNA突变导致的不孕症的治疗方法的兴趣。
未经证实：该病例是Leber遗传性视神经病变患者精子和附睾上皮异常的首次描述。它提请注意线粒体疾病患者的精子病理。必须怀疑mtDNA突变的作用，因为它在精子的发育和运动中起着重要作用。此外,艾地苯醌可以绕过络合物I并将电子转移到络合物III。怀疑它对精子发生有有利作用。
UNASSIGNED：该病例证实了Leber遗传性视神经病变中精子功能障碍的可能性，以及艾地苯醌作为人类mtDNA突变导致的不孕症的治疗方法的兴趣。
