Persistence of Müllerian duct syndrome: a new AMH mutation discovered in a primary infertility case

Persistent Müllerian duct syndrome (PMDS) is a rare autosomal recessive syndrome characterized by the coexistence of Müllerian derivatives in a normally virilized male, caused by mutations in the AMH or AMHR2 gene. This paper reports the case of a 33-year-old man with PMDS, diagnosed late during an infertility check-up. Exploratory laparoscopy revealed two intra-pelvic gonads and Müllerian duct structures. Genetic analysis identified an undescribed homozygous missense mutation in the fifth exon of AMH. Typically, PMDS is diagnosed in the presence of cryptorchidism or inguinal hernia, and rarely in the context of infertility. Early orchidopexy is recommended to mitigate fertility sequelae while preserving endogenous hormone secretion. This late diagnosis of PMDS led to a discussion of the management of infertility, surgical strategies and adult follow-up. In this case, the decision was made with the patient to perform minimally invasive surgery, specifically unilateral orchidectomy for fertility management. The biopsy revealed no spermatozoa, probably due to prolonged untreated pelvic cryptorchidism. Retaining one testicle maintains endogenous testosterone production, thus avoiding imperfect hormonal replacement. Given the risk of tumoural degeneration, albeit a low one, annual imaging follow-up is mandatory and removal of Müllerian structures and gonadectomy may be considered if necessary.