Imaging Aspects in a Case of Persistent Müllerian Duct Syndrome (PMDS): A Case Report and Overview

Persistent Müllerian duct syndrome (PMDS) is a rare kind of internal male pseudohermaphroditism. The patient, who has a male karyotype and phenotypic characteristics, exhibits Müllerian duct derivatives such as the uterus, cervix, fallopian tubes, and upper two-thirds of the vagina. This article provides a comprehensive analysis of the CT and MRI characteristics of a case of PMDS in a 35-year-old male patient who sought medical attention at our clinic due to pain in the left inguinal region and the presence of undescended testes on both sides. The imaging results showed a pelvic mass with a bicornuate appearance, situated adjacent to the bladder on the left side. The diagnosis of compensated hypergonadotropic hypogonadism with a normal male karyotype is confirmed through biological and genetic studies. The final diagnosis was confirmed through histopathological examination following laparoscopic transperitoneal surgical removal. The examination revealed a left lateral vesical pelvic tumor with a firm-elastic, bicornuate appearance, along with a thickened endometrium. Microscopic findings included simple glandular hyperplasia with edema in the endometrium, a small adenomatous polyp at the uterine fundus, and bilateral rigid cords consistent with vas deferens histology. The primary issue with PMDS is in its rarity, which consequently limits the availability of comprehensive case series and prospective research. As a result, radiologists and surgeons must possess knowledge of this ailment, as there is a scarcity of defined treatment guidelines and long-term care strategies.