Orchiectomy and Hysterectomy for Persistent Müllerian Duct Syndrome Associated-Seminoma in a 35-Year-Old Father: A Rare Case Report

Background A persistent Müllerian duct syndrome is a rare disorder of sexual differentiation characterized by the presence of the female reproductive system in a normal male. Herein, we report a case of a 35-year-old father with the persistent Müllerian duct syndrome and seminoma in the right undescended testis. The exploratory laparotomy was performed and revealed a mass in the right undescended testis and Müllerian duct structures.


Abstract Background
A persistent Müllerian duct syndrome is a rare disorder of sexual differentiation characterized by the presence of the female reproductive system in a normal male.

Case presentation
Herein, we report a case of a 35-year-old father with the persistent Müllerian duct syndrome and seminoma in the right undescended testis. The exploratory laparotomy was performed and revealed a mass in the right undescended testis and Müllerian duct structures.

Conclusions
For patients with cryptorchidism and inguinal hernia, the persistent Müllerian duct syndrome should be considered, and radiological evaluation of the genitourinary system is recommended for early diagnosis of persistent Müllerian duct syndrome. The persistent Müllerian duct syndrome is usually detected during surgical operation, and it is considered a risk factor for developing testicular malignancies.

Background
Persistent Müllerian duct syndrome (PMDS) is a sexual development disorder characterized by the presence of female reproductive organs in individuals with both normal chromosomes (46, XY) and a normal phenotype of a male. It could be accidentally found during orchidopexy, laparotomy, or routine inguinal hernia repair in patients presenting with cryptorchidism (undescended testis). Usually, one testis is typically positioned, and the other is undescended. However, it is conceivable to be bilateral as well [1,2]. The persistence of Müllerian ducts (MD) in these genetically normal males may be explained by the incapacity to produce the anti-Müllerian hormone (AMH) by Sertoli cells or a defect in AMH type II receptor (AMHR-II) since this hormone causes MD regression [3]. Cryptorchidism is a risk factor for developing testicular cancers, and it was reported to be associated with PMDs [4,5]. So far, few cases of PMDs associated with seminoma have been reported.

Case Presentation
A 35-year-old mute father with one child presented to the Department of General Surgery with persistent spastic belly-aches in the right iliac fossa (RIF) treated with antispasmodicand analgesic medications. The patient has a typical male appearance with regular secondary sexual characteristics and a medical history of inguinal hernia repair 15 years ago. Apart from the abovementioned medical history, an ultrasound (US) demonstrated a large echogenic mass located in the RIF. No clinical/biological appendicitis signs were found including; (the Mc Burney sign, abdominal guarding, fever, and neither vomiting nor hyperleukocytosis) which excluded the diagnosis of appendicitis. Consequently, a computed tomography (CT) scan was performed and revealed a hypodense homogeneous mass between the cecum and the urinary bladder with a diameter of 8 cm compressing the latter and allowing the diffusion of the contrast product ( Fig. 1). A large internal iliac lymph node exceeding 1 cm of diameter was also observed. Furthermore, evaluating the right upper hypochondriac region with a CT scan demonstrated a gallbladder containing a small stone. A laparotomy procedure was performed. Exploring the abdominal iliac fossa revealed a dermoid cyst in an undescended right-sided testis, resulting in a perioperative diagnosis of an undescended testis tumor. Moreover, during laparotomy, a globular structure resembling the uterus with the cervix, Fallopian tubes, and vagina were found (Fig. 2). However, ovaries were not found. Uterine catheter with a radio-contrast agent to explore the uterus depth was introduced, and a right infundibulum was discovered attached to the visceral abdominal wall (Fig. 3). An orchiectomy for the right undescended testis was performed, as well as resection of the associated mass. Ten days later, total excision of the uterus with the Fallopian tube, cervix, infundibulum, and cholecystectomy, were conducted. During surgery, a mucous liquid in the uterus cavity, not exceeding 50 ml, and a swollen pouch of Douglas were found. Post-operation, the patient's condition remained stable with no evidence of recurrence. The specimen showed a mass of well-circumscribed testis, with smooth gray mass, and attached tube-like structure. Weighs 239 gm measured ~ 10 × 75 cm (Fig. 4). Cut sections revealed a tan/white friable surface. Cut sections of the mass showed sheets and lobular con guration of germ cells with hyperchromatic nuclei and prominent nucleoli surrounded by thin brous septa in ltrated by lymphocytes. No hemorrhage or necrosis were noticed. The nearby regions showed hyalinized seminiferous tubules. The histopathological study con rmed the features of a classical seminoma. The tunica albuginea and the epididymis were free (Fig. 5). Throughout second surgery, the specimen of the pelvic mass-like uterus shape revealed a rudimentary uterus with a cervix that weighs 60 gm and measures ~ 11 × 5 × 3 cm, the body ~ 5 × 5 × 3 cm, and the cervix ~ 6 × 2 cm (Fig. 4). Cut sections revealed an endometrial-like surface. The histopathological study demonstrated atrophic endometrium and myometrium of the uterus. In the cervix, an ulcerated endocervical mucosa was observed.
Furthermore, seminal vesicle tissue is noticeable on the wall. On one side of the uterus, the Fallopian tube tissue surrounded by brous-fatty tissues, including rete testis and efferent ductules were detectable. The histopathological examination overall con rmed the presence of both seminoma on the right side undescended testis and uterus, cervix, Fallopian tube (persistent Müllerian duct structures) (Fig. 5). The nal diagnosis was a seminoma of the undescended testis with PMDS.

Discussion And Conclusion
PMDS was rst described in a male with an inguinal hernia in 1939 by Nilson, presenting as hernia uteri inguinal. It may be caused by an absence of AMH released from Sertoli cells of the male fetus from the seventh week of gestation, it is responsible for the regression of the Müllerian duct. When AMH is not secreted, that may lead to the persistence of female reproductive organs in the males with PMDS [6, 7]. Two anatomic variants have been described: male and female. The male type is most common, and it is classi ed into two subcategories: hernia uteri inguinal and transverse testicular ectopia. The majority of cases present with unilateral cryptorchidism, and contralateral inguinal hernia [8]. In this case, we demonstrate a rare type of pseudo-hermaphroditism in males characterized by extra female genital organs present in a normal 46XY genotypical and phenotypical father. These organs represent MD structures (the uterus, Fallopian tubes, and upper two-thirds of the vagina). However, radiological ndings only revealed the right Fallopian tube in this syndrome (Fig. 3) [9]. PMDS patients are rarely fertile and most of them usually suffer from infertility and inguinal hernia. Causes of infertility are various as testis hypoplasia, and ejaculatory duct obstruction due to compression by MD structures. In comparison, our patient was married and had a child [10]. The diagnosis of PMDS is often controversial because there are no speci c clinical symptoms, it is discovered incidentally either hernia repair or surgery for undescended testes. The risk of malignant transformation increases after puberty, therefore early diagnosis should be recommended (Fig. 5) [11,12]. Seminoma is the most common testicular germ-cell tumor. In PMDS, the incidence of malignant transformation in the undescended testis is similar to the incidence of testicular carcinoma in patients without PMDS. Moreover, Müllerian malignancies are more probable to develop than testicular cancer in PMDS [12,13]. Usually, the undescended testis is detected in the inguinal channel or intra-abdominally, as in our case the right undescended testis was situatedintra-abdominally and the left one was in the scrotum. When testicular malignant is suspected the appropriate surgical procedures of orchiectomy followed by removal of MD structures may be discussed [14]. This publication aims to emphasize the importance of profound clinical examination that may help the diagnosis of PMDS associated with seminoma, even in males with typical appearance and secondary sexual characteristics. The correlation between these two diseases is still unclear. Further diagnostic procedures are required while dealing with an inguinal hernia and cryptorchidism patients to early detect PMDS and to prevent relevant complications.