Surgical resection therapy of a rare presentation of persistent Mullerian duct syndrome: a case review

• Published in: Therapeutic advances in rare disease 2023-01, Vol.4, p.26330040231184484
• Main Authors: Faria, Iwens Moreira de, Souza, Augusto Machado de, Júnior, Luiz Rodrigues Pereira, Leite, Gabriel Gomes Vieira Ribeiro
• Format: Article
• Language: English
• Subjects: Case Report
• ISSN: 2633-0040; 2633-0040
• DOI: 10.1177/26330040231184484

Persistent Mullerian Duct Syndrome (PMDS) is an extremely rare disease with less than 300 cases recorded in medical literature. Our patient was a 37 year old male who presented at the medical office with hematospermia as his sole complaint. He had previously undergone left orchidopexy and presented with hypotrophic left testicle and right testicle agenesis. PMDS differential was considered with the clear observation of a uterus-like structure during pelvic ultrasonography. The organs were later studied in magnetic resonance imaging and confirmed by post-surgery anatomopathological examination. Patient was discharged 24 h after surgery and developed azoospermia post-surgery. Plain language summary Operative correction of an extremely rare condition called Persistent Mullerian Duct Syndrome (PMDS). What is PMDS? PMDS is a disease which has less than 300 cases in medical literature. It is a congenital condition characterized by the development of female genital organs such as the uterus and ovaries, in an otherwise normal male individual. The fetal development of these structures begins when the male fetus develops his genitalia, during the period when he must produce a hormone (anti-mullerian hormone), which suppresses female genitalia growth. Since this fetal stage is the turning point for genital development, lack of this hormone commonly results in the presence of functional female genital organs in an adult male, which characterizes the syndrome. Multiple reports also associate the syndrome with ectopic testis (cryptorchidism) or gonadal absence and dysfunctional sexual cell production. What was the aim of the report? The aim is to present a rare presentation of an already extremely rare disease in order to enrich the literature with another case of PMDS and the outcome of surgical correction. How was the patient treated? After discovering female organs in the male pelvis during an ultrasound scan, an elective surgery was performed to evaluate the removal of the uterus, fallopian tubes, ovary and vaginal canal through video laparoscopy. Why is this case important? The overall medical knowledge about PMDS is rather limited due to the reduced number of cases and the relatively wide variety of presentations. This article is useful to present a rather rare presentation, in which cryptorchidism and testicular agenesis were concomitant with hematospermia. Other than that, the diagnosis was done late in the patient’s life, having lived over three decades with f