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Persistent Mullerian Duct Syndrome - United Arab Emirates Experience

Amin El-Gohary

Department of Pediatric Surgery, Burjeel Hospital, Abu Dhabi, United Arab Emirates

 

Correspondence:

Amin El-Gohary

Burjeel Hospital

Abu Dhabi, UAE P.O.Box 7400

E-mail: This email address is being protected from spambots. You need JavaScript enabled to view it.

Phone: +97150 6225532

 

Abstract

Between 1994 and 2012 we used both diagnostic and operative laparoscopy in the management of 9 cases of persistent mullerian duct syndrome, 4 of which had associated testicular ectopia. They presented with cryptorchidism and inguinal hernias. The diagnosis was established during diagnostic laparoscopy. The non-palpable testes were on the left side in 7, on the right in 1 and bilateral in one. The latter case had been managed previously in another hospital by an open technique, and the diagnosis was missed. The last patient was initially diagnosed as a case of adrenogenital syndrome before gonadal biopsy proved to be a testicular tissue.  Transverse testicular ectopia was present in 4 unrelated boys. All the cases were managed by splitting the uterus in the midline and then bringing the testis with the vas and attached uterine tissue into the scrotum. Six of the 9 cases were managed laparoscopically. Follow-up at 2 and 10 years showed satisfactory results in 8 of the 9 cases.

Keywords Mullerian duct syndrome, laparoscopy, testes


Introduction

Persistent mullerian duct syndrome (PMDS) is a rare disorder of male sexual development. It is characterized by the persistence of the uterus, fallopian tubes and upper vagina in otherwise normal virilized boys. About 150 cases have been reported in the literature [1]. However, with the introduction of diagnostic laparoscopy as a routine procedure for the management of non-palpable testes, more cases are likely to be discovered [2]. Transverse testicular ectopia is a rare association with persistent mullerian duct syndrome. We report 9 cases of PMDS, 4 of whom had associated transverse testicular ectopia. Laparoscopic mobilization of the pelvic testes on a rim of uterine tissue proved to be a simple and effective means of orchidopexy.

Case study

Case 1

A 5-year-old boy is presented with a left undescended testis (UDT). He had undergone a previous exploration for right-side hernia at another hospital, where no testis was found. Laparoscopy via 5-mm port revealed an average size left testis attached to the mullerian structures (uterus and fallopian tubes), and the vas on the right side was seen passing through a closed internal ring (repaired hernia). Through transverse suprapubic incision the mullerian structures and the left testis were mobilized and the right canal was opened. An atrophied right testis was found and removed. The left testis was brought to the scrotal sac together with a rim of uterine and cervical tissue to preserve its blood supply. Biopsy from the gonad and mul- lerian remnants revealed normal testicular tissues and vestigial uterine and fallopian tissues.

Case 2

A 2-year-old boy presented with a right non- palpable testis and left inguinal hernia. Laparoscopy via 5-mm port revealed two pelvic testes attached to uterus and fallopian tubes (mullerian structures). Through a suprapubic incision the uterus and cervix were split in two halves, and each testis was mobilized into the respective hemiscrotum. The blood supply to the left testis was injured during mobilization and subsequently atrophied. Biopsy from the gonads and mullerian remnants revealed normal testicular tissues and vestigial uterine and fallopian tissues.

Case 3

A 9-month-old boy presented with right non- palpable testis and left inguinal hernia. Laparoscopy revealed a pelvic testis attached to mullerian structures. Through a right inguinal incision the mullerian structures were mobilized (Fig. 1), and the uterus and cervix were split in the midline, preserving the blood supply to both testes. The left testis was brought laparoscopically to the ipsilateral scrotal sac via a direct route. The right testis was fixed in the ipsilateral extra Dartos pouch (laparoscopic assisted procedure). Biopsy from the gonads and mullerian remnants revealed normal testicular tissues and vestigial uterine and fallopian tissues.

Figure 1: Structures of persistent mullerian duct syndrome

9.1.4.1

Case 4

A 7-month-old boy (the brother of the boy in the second case) presented with left non-palpable testis and right inguinal hernia. Laparoscopy revealed an absent left testis and closed internal ring. However, on inspecting the right side, we encountered a testis lying above the opened internal ring. Pulling on that testis revealed another testis. This represents a case of transverse testicular ectopia attached to the mullerian structures. The uterus and cervix were split in the midline laparoscopically, and the left testis was brought down into the left scrotal sac attached to a rim uterine tissues. Biopsy showed a remnant of mullerian duct rests.

Case 5

A 6-month-old boy (brother of the boy in the third case) presented with left non-palpable testis and right inguinal hernia. The finding was similar to case 4, in which there was an absent testis on the left side and two testes on right attached to the mullerian structures. Through right groin incision, the uterus and cervix were split in the midline, and the left testis was brought to the scrotal sac laparoscopically via a direct route. Biopsy from the gonads and mullerian remnants revealed normal testicular tissues and mullerian duct rests.

Case 6

A 7-month-old boy presented with right inguinal hernia and left non-palpable testis. Laparoscopy revealed an absent left testis with closed internal ring. However, on inspecting the right side, we encountered a testis lying above the opened internal ring. Pulling on that testis revealed another testis that was attached to the crossed testis by remnant of Mullerian tube (Fig. 2). The uterus and cervix were split in the midline laparoscopically, and both testes with a rim of Mullerian tissues were sited in their ipsilateral heiscotum. He had a brother with persistent Mullerian syndrome, who presented with right impalpable testis and left inguinal hernia at the age of 2 years.

Figure 2: The left testis crossing to the contralateral internal ring

9.1.4.2

Case 7

A 6-month-old boy presented with right inguinal hernia and left non-palpable testis. At laparoscopy there was an absent testis on the left side and two testes on right attached to mullerian remnants. Through right groin incision, the uterus and cervix were split in the midline, and the left testis was brought to the ipsilateral scrotal sac laparoscopically via a direct route. He had a brother with persistent Mullerian syndrome who presented at the age of 9 months with right non-palpable testis and left inguinal hernia.

Case 8

An 8 month old baby presented with right sided inguinal hernia, non palpabable left testis and peno-scrotal hypospadias His karyotype was 46XY. The laparoscopic findings were that of crossed testicular ectopia and persistent mullerian remnants. The fallopian tubes were present but the uterus was less muscular than in previous cases. The uterus spitted the mid line laparascopically bringing both testes to the ipsilateral side via direct approach medial to the internal ring.

Case 9

An 1 year old boy was operated because of a left side non-palpable testis and right inguinal hernia diagnosed laparoscopically to be a case of adrenogenital syndrome with uterus , fallopian tubes and left gonad believed to be that of a female baby. The condition was diagnosed as PMDS when the histopathological exam of the gonad revealed testicular tissue and chromosomal analysis revealed 46XY pattern. The case was referred to our institute for laparoscopic management of PMDS. At laparoscopy the left abdominal testis was brought into the scrotum via the right side with trans septal placement into the left hemiscotum.

Table 1 summarizes the clinical findings and operative procedures of our patients. The follow-up period was 2 to 10 years (mean: 5.1 years). A good-sized testis in a satisfactory scrotal position was seen in 8 cases. One testis was atrophied as a result of vascular injury during mobilization.

 

 

CASE

 

 

AGE

 

CLINICAL FINDINGS

 

FAMILY HISTORY

 

  OPERATION FINDINGS

 

Open

SURGERY

 

     LAPAROSCOPIC SURGERY

 

Impalpable  Inguinal

Testis           Hernia

 

1

 

5 years

 

Left

 

Right

 

No

Persistent Mullerian Duct (PMD)

 

Yes

 

No

 

2

 

2 years

 

Right

 

Left

 

 

Brother of case 3

 

PMD

 

Yes

 

No

 

3

 

 

7 months

 

Left

 

Right

PMD + testicular ectopia

 

No

 

Yes

 

4

 

 

9 months

 

Right

 

Left

 

 

Brother of case 5

 

PMD

 

No

 

Yes

 

5

 

 

6 months

 

Left

 

Right

PMD + testicular ectopia

 

No

 

Yes

 

6

7 months

 

Left

 

Right

One of Brothers has PMD

PMD + testicular ectopia

 

No

 

Yes

 

7

 

 

6 months

 

Left

 

Right

 

 

No

PMD + testicular ectopia

 

Yes

 

yes

 

 

 

8

 

 

8 months

 

Left

Right

+ penoscrotal hypo- spadias

 

 

No

 

 

PMD + testicular ectopia

 

 

 

No

 

 

 

Yes

 

 

 

9

 

 

 

1 year

 

Left

Right diagnosed as a case of adreno-genital syndrome

 

 

 

No

 

 

 

PMD

 

 

 

NO

 

 

 

Yes

Discussion

Persistent mullerian duct syndrome is characterized by the presence of the uterus, cervix, upper vagina and fallopian tubes in otherwise normally differentiated 46 XY males (Fig. 3). Nilson et al. [3] first described it in a man with inguinal hernia in 1939 as hernia uteri inguinal. During embryogenesis, regression of mullerian structures is mediated by antimullerian hormone (AMH), also called mullerian inhibiting substance (MIS) produced by fetal Sertoli cells. PMDS is attributed to deficient AMH activity or to abnormalities in AMH receptors. The subjects commonly present with inguinal hernias and cryptorchidism. Several pairs of siblings have been described in whom the condition must have been inherited as an autosomal recessive or an X-linked recessive mutation [4, 5, 6].

Figure 3: Initial laparoscopic finding in a case of PMDS with ectopic testes giving the impression of absent testis

9.1.4.3

We have encountered two pairs of siblings belonging to different families in our patients. It is important therefore to counsel the parents of affected boys about the likelihood of recurrence and to examine other boys in the family. Transverse testicular ectopia is a rare form of testicular ectopia of uncertain embryogenesis. Lenhosseck et al [7] first reported it in 1886. Although TTE and PMDS have been reported in adults, only 12 cases have been reported in the English literature [1, 8-14]. It seems possible that the mechanical effect of the PMD structures prevents testicular descent or leads to both testes descending towards the same hemiscrotum, producing TTE as in our 4 cases. Awareness of these phenomena is essential to avoid labeling these boys as having an absent or vanishing testis, when it is present in the contralateral side. Various procedures have been described for the treatment of cryptorchidism associated with PMDS and/ or testicular ectopia.

Transseptal fixation, also known as a modified Ombredanne operation, initially gained popularity. But the possibility of losing both testes during trauma or infection has made it less appealing. Only one of our patients was treated using Omberdanne procedure and the rest were brought via ipsilater route. We recommend translocation of the ectopic testis into its respective hemiscrotum via a direct route medial to the internal ring. We used a 5-mm telescope via the umbilicus and two other ports (3 and 5 mm) at the right and left hypochondrial area. In two patients the uterus and cervix were split in the midline by the open method, and the contralateral testis was brought into the respective hemiscrotum laparoscopically, but we have found it is feasible to do the whole procedure laparoscopically as an evolving learning curve. There have been no reports of malignancy arising from the remnant mullerian structures, and this is why we opted to preserve the blood supply to the testicular tissues by bringing them on to a rim of uterine tissues to preserve future fertility [5, 13].

Conclusion

Mullerian remnants can be readily diagnosed during diagnostic laparoscopy for impalpable testes. Awareness of the possible forms of PMDS and associated testicular ectopia help to plan the proper line of management and avoid labeling some boys as having absent testes. Laparoscopy has proved to be a simple, effective and less invasive method of dealing with PMDS.

 

 

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