Anejaculation in a patient with Charcot-Marie-Tooth
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摘要:
Dear Editor,
The occurrence of delayed ejaculation or anejaculation has been previously suggested in patients with Charcot-Marie-Tooth (CMT) syndrome. Despite this, such disorder is rarely investigated and may be underestimated in patients with this disease. We report the case of a 20-year-old men with CMT 1B due to the presence of a punctiform mutation in the exon 2 of the myelin protein zero (MPZ) gene (1q23.3) (Ser78Leu), complaining for life-long anejaculation. He inherited this mutation from the mother and it has also been detected in his grandmother. No other components of his family were positive at the genetic testing.