Persistence of Müllerian Duct Syndrome: a new AMH mutation discovered in a primary infertility case

• Published in: Reproductive biomedicine online 2024-10, p.104494, Article 104494
• Main Authors: Navarro, M., Bouligand, J., Kalsoum, S., Pottier, E., Droumaguet, C., Vialle, C. Pietin, Sellam, R., Massin, N., Pasquier, M., Bry-Gauillard, H.
• Format: Article
• Language: English
• Subjects: Anti-Müllerian hormone; Azoospermia; Cryptorchidism; Exploratory laparoscopy; Infertility; Persistent Müllerian duct syndrome
• ISSN: 1472-6483
• DOI: 10.1016/j.rbmo.2024.104494

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 anti-Müllerian hormone (AMH) or AMH receptor II (AMH-RII) genes. We report the case of a 33-year-old man with PMDS, diagnosed late during an infertility check-up. Exploratory laparoscopy revealed two intrapelvic gonads and Müllerian duct structures. Genetic analysis identified an undescribed homozygous missense mutation in the 5th exon of the AMH gene. 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 discuss the management of infertility, surgical strategies, and adult follow-up. In our case, the decision was made with the patient to perform minimally invasive surgery, specifically a unilateral orchidectomy for fertility management. The biopsy revealed no spermatozoa, likely due to prolonged untreated pelvic cryptorchidism. Retaining one testicle maintains endogenous testosterone production, thus avoiding imperfect hormonal replacement. Given the low risk of tumoral degeneration, annual imaging follow-up is mandatory and removal of Müllerian structures and gonadectomy may be considered if necessary.