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

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 female genitals in his pelvis without any malignant (cancerous) mutations. The case report can also provide a record for the outcome of azoospermia, which is the absence of motile (and hence viable) sperm in the semen, following a non-complicated post-surgical recovery, which suggests unknown mechanisms may be involved in gonadal development after birth, and a different endocrine balance in patients with the syndrome.