Synonyms
Hernia uteri inguinalis; Male with uterus
Definition
Persistent Müllerian Duct Syndrome (PMDS) is a disorder in sexual development characterized by the presence of structures derived from the Müllerian duct (uterus, cervix, upper part of the vagina, and uterine tubes) in a genotypic and phenotypically normal male. This situation is due to a defect in the gene that encodes the synthesis or release of anti-Müllerian hormone by Sertoli cells, a process that begins around the seventh week of development immediately after the seminiferous cords have been formed. Other cause could be a failure of end organs to respond to AMH. The defect can affect only one testicle and then, the pathology derived from the absence of regression of the Müllerian duct would be unilateral.
Clinical Features
The most frequent symptoms are absence of testicular descent (25% unilateral, 75% bilateral), a hernia sac inside which a testicle is palpable, infertility, and tumor. The PMDS are classified...
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Al Harbi, T. Z., Azzam, K. A., Azzam, A., Amin, T., & Bakshi, N. (2018). Incidentally discovered persistent müllerian duct syndrome in a 45-year-old male presenting with germ cell tumor and bilateral cryptorchidism: A rare case report and review of the literature. International Journal of Surgery Case Reports, 43, 41–44.
Bowen, D. K., Matulewicz, R. S., & Gong, E. M. (2016). Preservation of müllerian structures with laparoscopic management of intra-abdominal testes in persistent müllerian duct syndrome. Journal of Pediatric Urology, 12, 65–66.
Farikullah, J., Ehtisham, S., Nappo, S., Patel, L., & Hennayake, S. (2012). Persistent Müllerian duct syndrome: Lessons learned from managing a series of eight patients over a 10-year period and review of literature regarding malignant risk from the Müllerian remnants. BJU International, 110(11 Pt C), E1084–E1089.
Nistal, M., Paniagua, R., Isorna, S., & Mancebo, J. (1980). Diffuse intratubular undifferentiated germ cell tumor in both testes of a male subject with a uterus and ipsilateral testicular dysgenesis. Urology, 124, 286–289.
Rajesh, A., & Farooq, M. (2017). A rare case of male pseudohermaphroditism-persistent mullerian duct syndrome with transverse testicular ectopia – Case report and review of literature. International Journal of Surgery Case Reports, 37, 72–75.
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Nistal, M., González-Peramato, P. (2020). Disorders of Sexual Development, Persistent Mullerian Duct Syndrome. In: Raspollini, M.R., Lopez-Beltran, A. (eds) Uropathology. Encyclopedia of Pathology. Springer, Cham. https://doi.org/10.1007/978-3-030-41894-6_4801
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DOI: https://doi.org/10.1007/978-3-030-41894-6_4801
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