Persistent Mullerian Duct Syndrome: A Single-Center Experience

Abstract

Context:

Persistent Mullerian duct syndrome (PMDS) is a rare disorder. It is a type of male pseudohermaphroditism, usually presenting as “Hernia Uteri Inguinalis”.

Aims:

This study aims to present our experience of PMDS, over a 7-year period.

Settings and Design:

Our center is a tertiary care facility, situated in Tamil Nadu, a southern state of India.

Subjects and Methods:

This is a retrospective study. The study period was from 2007 to 2015. Seven cases presented during that period. The difficulties in diagnosis, treatment options discussed, along with a review of literature are presented.

Results:

Seven cases of PMDS presented over 8 years. Only four were diagnosed preoperatively. Mullerian remnants were excised in five cases.

Conclusions:

PMDS is rare. Orchiopexy should be the goal of treatment.

INTRODUCTION

Persistent Mullerian duct syndrome (PMDS) is a rare form of male pseudohermaphroditism (MPH), which is characterized by the lack of regression of mullerian derivatives-uterus and tubes, in otherwise normally masculinized males. It is usually discovered during surgery for hernia or undescended testis (UDT), as “hernia uteri inguinalis.”[1] The failure of testicular descent is due to mechanical restraint from abdominal Mullerian organs.[2] Vas deferens and epididymis are present, so fertility is possible if spermatogenesis occurs.[3] PMDS is often familial, presenting as an autosomal recessive trait.[4]

SUBJECTS AND METHODS

This is a retrospective study of seven children with PMDS from 2007 to 2015 admitted in our institution. Age and mode of presentation, clinical findings, investigations, peroperative findings, and postoperative complications were studied. Case details are summarized in Table 1.

Table 1.

Summary of case details

RESULTS

Seven cases of PMDS presented during 8 years. Age group varied from 1.5 to 4 years. The diagnosis was made preoperatively only in five cases based on clinical examination and ultrasound of abdomen. Ultrasound of abdomen was done in five cases, and Mullerian structures were detected only in two cases. In one case, which presented as transverse testicular ectopia (TTE), a diagnostic laparoscopy just before surgery, confirmed the diagnosis of PMDS. Four cases presented as inguinal hernia on one side, with UDT on the other side, two cases presented as TTE, one case presented as bilateral UDT. Bilateral orchiopexy was done in six cases, corporal, or partial hysterectomies, leaving behind cervix, were done in five cases. Complications noted were, injury to the vas on the right side in one case, and recurrence of inguinal hernia in twin brothers that presented in our series [Figure 2]. Though the twins were treated by different surgical procedures, they developed recurrence of hernia for no apparent reason. Both were repaired and doing well.

Figure 2.

Twin brothers with recurrence of hernia

Figure 1.

Mullerian remnants retained after left herniotomy, both testes brought down to left scrotal sac and right testis taken into right scrotal sac through median raphe

DISCUSSION

PMDS is a rarely reported disorder of sexual development. The incidence and prevalence are not well established. It was first described by Nilson in 1939, as hernia uteri inguinalis. This disease is often familial, inherited as autosomal recessive trait. PMDS is a rare form of MPH characterized by the presence of Mullerian structures, in 46xy phenotypic males.

PMDS is a distinct entity and can be explained by inadequate Mullerian suppression from hormonal influence. The hypothesis for causation of PMDS includes failure of synthesis or release of Mullerian inhibiting substance (MIS) or failure of end organs response to MIS.[5]

The gene responsible is chromosome 19. The primary function of MIS also known as anti-Mullerian hormone is, regression of Mullerian ducts in the male fetus. MIS is first secreted in effective amount during 56–62 days after fertilization, and Mullerian regression is completed by 77 days.[6] Another important function of MIS is to initiate testicular descent.

Clarence classified PMDS into three categories.[7](1) Bilateral intraabdominal testis in apposition analogue to ovaries (60%–70%), (2) One testis in scrotum with contralateral inguinal hernia where the contents are testis, uterus and tubes, known as hernia uteri inguinalis (20%–30%), (3) both testis in the same inguinal sac (10%) as TTE.

Ultrasonography, magnetic resonance imaging, and computed tomography scan have been used in successful detection of PMDS, with no clear advantage of one over the other.

There have been controversies in the management of PMDS, in dealing with Mullerian structures. One school of thought is that all mullerian structures due to the risk of malignant transformation should be removed.[8,9,10] The other group, on the contrary, is against excision of Mullerian structures as they may lead to ischemia and traumatic changes to vasa deferentia. Moreover, they suggest that optimal treatment is orchipexy, leaving uterus, and tubes in situ.[11] However, out of 262 cases reported 11 cases had developed malignancies of the Mullerian structures. Nearly 3.1%–8.4% of males develop Mullerian malignancies. To eliminate the risk of malignancy and spare, the patient of a lifelong follow-up Mullerian structures should be removed whenever possible, and the aim of management should be, to preserve the testis and hence the fertility potential.[12]

CONCLUSIONS

PMDS is rare. It commonly presents as inguinal hernia one side and UDT on the other side. The diagnosis should be made preoperatively itself, by having a high index of suspicion when a child presents with bilateral inguinoscrotal problems, confirmed by a good ultrasonogram, and should no more be a surprise finding. If suspected clinically, but not supported by ultrasonogram, a diagnostic laparoscopy just before surgery could be helpful. Orchiopexy should be the goal of management, and whenever possible, excision of Mullerian structures meticulously, avoiding injury to vas, should be performed.

Declaration of patient consent

The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.

Financial support and sponsorship

Nil.

Conflicts of interest

There are no conflicts of interest.