A rare cause of anejaculation: mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome: case report.

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.