Unal Selman
Department of Urology, Ankara Yildirim Beyazit University School of Medicine, Ankara, Turkey.
Int J Impot Res. 2023 Dec 21. doi: 10.1038/s41443-023-00813-2.
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome is an extremely rare multisystem disorder with autosomal recessive inheritance and impairs mitochondrial DNA replication, which causes myopathy and neurodegeneration. The classical symptoms of this syndrome are progressive gastrointestinal dysmotility and peripheral neuropathy. We are presenting a patient who had MNGIE syndrome and presented with anejaculation for the first time in the literature. A 27-year-old male patient applied to the urology clinic with anejaculation. It was learned that the patient had lifelong anejaculation and had no problems with libido, erection, or orgasm from his sexual history. In the evaluation of the etiology of anejaculation, the patient did not have any known causes of anejaculation. From the patient's medical history, it was learned that he was diagnosed with MNGIE syndrome when he presented to another hospital with gastrointestinal symptoms 5 years ago. Neurodegenerative diseases are the potential cause of anejaculation due to sensorimotor neuropathy and paresthesia. The patient was given genetic counseling and was informed about assisted reproductive techniques and that his partner should be screened for MNGIE syndrome. In conclusion, when evaluating neurodegenerative diseases, it is of great importance to question the patients' sexual problems, which are important for their quality of life, and to provide appropriate counseling.
线粒体神经胃肠性脑肌病（MNGIE）综合征是一种极为罕见的常染色体隐性遗传多系统疾病，会损害线粒体DNA复制，进而导致肌病和神经退行性变。该综合征的典型症状为进行性胃肠动力障碍和周围神经病变。我们报告了一名患有MNGIE综合征且首次出现射精障碍的患者，这在文献中尚属首次。一名27岁男性患者因射精障碍前往泌尿外科就诊。从其性病史得知，患者终生存在射精障碍，性欲、勃起或性高潮方面均无问题。在对射精障碍病因进行评估时，患者不存在任何已知的射精障碍原因。从患者病史中了解到，他5年前因胃肠道症状前往另一家医院就诊时被诊断为MNGIE综合征。神经退行性疾病因感觉运动神经病变和感觉异常可能是射精障碍的潜在病因。对该患者进行了遗传咨询，并告知其辅助生殖技术相关情况，同时告知其伴侣应接受MNGIE综合征筛查。总之，在评估神经退行性疾病时，询问对患者生活质量至关重要的性问题并提供适当咨询非常重要。
