Persistent Müllerian duct syndrome, bilateral undescended testes, torsed right testicular tumor
Presentation
Acute lower abdominal pain, nausea, vomiting for five hours
Patient Data
A heterogeneous mass is visible in the left side of the pelvic cavity with central non-enhancing and hemorrhagic components. A noticeable finding is a structure in the right side of the pelvis very similar to the uterus and cervix. An ovarian-like structure is seen in the left adnexa, and the mass in the left side of the pelvis seems to be of the right adnexal origin. No spermatic cord is visible in inguinal canals. A right-sided fat-containing inguinal hernia is present.
The patient underwent a laparotomy. A uterus, fallopian tube, and a torsed right side gonadal mass were found during surgery. A right salpingo-gonadectomy was made, and the left gonadal biopsy was performed. Histopathologic exam of the specimen shows mixed germ cell tumor arising from the right un-descended testis(UDT) and seminoma of the left UDT.
The red arrows point to the hypo-enhancing hemorrhagic right gonadal mass, and the white shows the uterine body and endometrial cavity. The black arrow depicts the uterine cervix, and the yellow points to the absence of a spermatic cord in the inguinal canal. The orange represents the right-sided fat-containing inguinal hernia.
The photo of the pathology report is visible that shows mixed germ cell tumor of the right and the seminoma of the left undescended testes.
Several years later on, follow-up MRI, a pelvic mass had been reported in an outside center visible on the below box.
The pelvic mass is the uterus which blends with the seminal vesicles instead of the cervix in the lower segment.
Case Discussion
The persistent Mullerian duct syndrome is a type of pseudohermaphrodism in a genetically and phenotypically male person. It is characterized by the persistence of the uterus and fallopian tubes in a male with typical male external genitalia. The testes are usually undescended. The persistent Mullerian duct syndrome is an autosomal recessive disorder due to deficiency of anti-mullerian hormone effect, which could be due to mutations in the anti-mullerian hormone or its receptor or insensitivity of target organs.