+
MODEL
Journal of Pediatric Urology (2014) xx, 1e5
Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes C.H. Wei a, N.L. Wang a,*, W.H. Ting b, Y.C. Du c, Y.W. Fu a a
Department of Pediatric Surgery, Mackay Memorial Hospital, Taipei, Taiwan Department of Pediatric Endocrinology, Mackay Memorial Hospital, Taipei, Taiwan c Department of Pediatric Surgery, Mackay Memorial Hospital, Hsinchu, Taiwan b
Received 11 October 2013; accepted 17 January 2014
KEYWORDS Persistent Mullerian duct syndrome; Undescended testis; Mullerian duct anomaly; Inguinal hernia
Abstract Objective: In dealing with persistent Mullerian duct syndrome (PMDS), excision of Mullerian duct remnant (MDR) has been rarely mentioned in the past, but recent discussions have taken place. This study aimed to evaluate the operative feasibility and outcomes. Materials and methods: Three patients with PMDS operated on with excision of MDR between 2000 and 2009 were enrolled. Medical records were retrospectively collected and reviewed. Results: Bilateral undescended testis was manifested in all cases. Two patients presented with incarcerated hernia, requiring emergency herniorrhaphy at the ages of 6 months and 10 days, respectively. Reconstruction comprising simultaneous MDR excision and orchiopexy was made at the age of 1 year. MDR was incidentally found in another patient during operation for undescended testis. Immediate reconstruction was accomplished. Follow-up periods were 12.0, 3.5, and 2.5 years, respectively. Worse outcomes were noted on the two testes with repeated operations for incarcerated hernias, whereas the outcomes on the other four testes with a single operation were favorable. Conclusions: Excision of MDR is technically feasible, and provides favorable outcomes in cases of a single operation. For experienced surgeons, immediate reconstruction should be the priority when this abnormality is incidentally encountered at an age suitable for orchiopexy. ª 2014 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
Introduction Persistent Mullerian duct syndrome (PMDS) is a rare 46,XY disorder of sex development, characterized by the
presence of internal female productive organs in genotypically normal males. The etiology is absence of either Mullerian inhibiting substance or anti-Mullerian hormone receptor, subsequently blocking Mullerian duct regression.
* Corresponding author. Tel.: þ886 2 2543 3535x3060; fax: þ886 2 2543 3642. E-mail address: [email protected] (N.L. Wang). 1477-5131/$36 ª 2014 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.jpurol.2014.01.012
Please cite this article in press as: Wei CH, et al., Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes, Journal of Pediatric Urology (2014), http://dx.doi.org/10.1016/j.jpurol.2014.01.012
+
MODEL
2
C.H. Wei et al.
PMDS is frequently associated with a variety of testicular abnormalities, mostly cryptorchidism [1,2]. There is agreement that orchiopexy is indicated to preserve spermatogenesis function and prevent testicular malignancy [3,4]. Excision of Mullerian duct remnant (MDR) is thought to be technically demanding and to put patients at risk of deferential injuries [4]. The main concern is that the retained Mullerian structure may become malignant [5e9]. Optimal surgical management of PMDS has not been standardized. Here, we review our experience of excision of MDR, and evaluate surgical feasibility and outcome.Table 1
Materials and methods Excision of MDR was performed in three patients with PMDS at our institution between January 2000 and December 2009. Orchiopexy was performed simultaneously as bilateral undescended testis was present in all patients. With institutional review board approval, patient medical records were retrospectively reviewed; they included presentation, operative findings, and genetic and hormonal surveys, as well as the outcomes of testicular locations and development. The operative techniques and clinical courses of each case are described in the following sections.
Operative method By entering the peritoneal cavity via a low transverse abdominal incision, MDR could be detected posterior to the urinary bladder. Vasa deferentia were tightly attached on both sides of the MDR. Biopsies were performed on both gonads. With the assistance of loupes magnification, vasa deferentia were cautiously separated from MDR (Figs. 1 and 2). For the purpose of protecting the vasa deferentia, it was imperative to dissect closely along the margin of the MDR. Generally, tutting into the adventitia was necessary. Dissection was carried out down to the confluence where vasa deferentia joined the vagina (Fig. 3). MDR was resected
Table 1
Figure 1 Posterior view of Mullerian duct remnant (MDR). A Mullerian structure and normal male external genitalia were observed. A loose space between the MDR and the vas deferens could be inspected at the site of arrow; dissection began here toward the gonads.
(Fig. 4), while the stump was repaired. Vasa deferentia were detethered at this time and no longer restricted to orchiopexy. When a broad ligament was present, it was released to facilitate mobilization of the testes and spermatic cords. The original length of internal spermatic vessels was sufficient for orchiopexy; hence, the FowlereStephen procedure was generally dispensable. Thereafter, the testes were brought down through the inguinal canal and comfortably fixed to the bottom of the scrotum.
Patient 1 This male infant was born via in vitro fertilization with bilateral peeping-type undescended testes. An irreducible right inguinal hernia occurred at the age of 6 months.
Summary of surgical management for persistent Mullerian duct syndrome.
Author
Year
Cases (n)
Presentation
Surgery
Duration of follow-up
Outcome
Loeff et al. [10]
1994
2
MDR excision
NA
NA
Vandersteen et al. [4] De et al. [3] Shirasaki et al. [13] Parelkar et al. [12]
1997
1
Left MDR in situ
NA
NA
2002 2003 2009
1 1 1
Undescended testis; inguinal hernia Bilateral undescended testis; transverse ectopia Unilateral undescended testis Bilateral undescended testis Bilateral undescended testis
NA NA 6 mo
NA NA NA
Chaabane et al. [14]
2010
1
Transverse testicular ectopia
18 mo
Normal
Farikullah et al. [9]
2012
8
Undescended testis
0.5e5.0 y
NA
This study
2014
3
Undescended testis; incarcerated hernia
Left MDR in situ Partial MDR excision Split MDR in midline; laparoscopy Proximal salpingectomy; corporeal hysterectomy MDR excision; laparoscopy; preferred one-stage reconstruction MDR excision; preferred one-stage reconstruction
2.5e11.0 y
Favorable
Note. MDR Z Mullerian duct remnant; NA Z not available.
Please cite this article in press as: Wei CH, et al., Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes, Journal of Pediatric Urology (2014), http://dx.doi.org/10.1016/j.jpurol.2014.01.012
+
MODEL
Excision of Mullerian duct remnant for persistent Mullerian duct syndrome
Figure 2 Mullerian duct remnant was separated from vasa deferentia.
During the emergency operation, it was noticed that the right testis was connected to a Mullerian structure. The testis was biopsied. The herniated organs and the testis were reduced back to the peritoneal cavity, followed by closing of the external inguinal ring rather than herniorrhaphy. Reconstruction was made at the age of 1 year. There was some adhesion around the right testis and spermatic cord, but it did not seriously interfere with the procedure.
Patient 2 This patient was a 1-year-old boy with bilateral cryptorchidism. The right testis was at the groin, while the left one was impalpable. A Mullerian structure was detected incidentally by laparoscopy. Follicle-like structures were spotted on the surface of both gonads. When confirming normal testicular tissues by frozen sections, the decision
3
Figure 4 Mullerian duct remnant (MDR) was excised approximately 0.5 cm superior to the junction of vasa deferentia and MDR (arrow). The stump was repaired.
was made to conduct immediate reconstruction. Genetic and hormonal work-ups were done postoperatively.
Patient 3 This 10-day-old male infant presented with left incarcerated inguinal hernia. Both testes were undescended and palpable at the groin. A Mullerian structure was identified, along with the left testis in the hernia sac during the emergency operation. A gonadal biopsy was made prior to reducing herniated organs and the testis back to the peritoneal cavity. Herniorrhaphy was undertaken. During reconstruction at the age of 1.5 years, a dense fibrous scar surrounded left spermatic cord, shortened the spermatic vessels, and hampered orchiopexy. Therefore, the FowlereStephen procedure was needed to bring the testis down to the scrotum.
Results
Figure 3 Dissection continued down to the confluence where vasa deferentia joined the vagina. Note the broad ligament (arrow), which should be lysed in order to de-tether vasa deferentia.
The karyotypes of our three patients were 46,XY, with intraoperative gonadal biopsies referred to testicular tissues. Pathology of MDR showed uterine and epididymal tissues. Hormonal essays, including luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone, and estradiol, were within the prepubertal range. The followup periods were 12.0, 4.5 and 3.5 years in patient 1, patient 2, and patient 3 respectively. No retrovesical mass was identified by sonography in any of the patients. In patient 1, both testes had been growing according to puberty, but the right testis was relatively smaller. The left testis was well positioned at the bottom of the scrotum, while the location of the right testis was higher at mid-scrotum. Tanner stage was genitalia with stage 5 and pubic hair with stage 4. Pubertal hormone surveys illuminated normal testosterone and LH level, as well as a borderline elevated FSH level. In patient 2, both testes were equal-sized and were located at the bottom of the scrotum. In patient 3, the size and position of the right testis were correct, whereas left testis
Please cite this article in press as: Wei CH, et al., Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes, Journal of Pediatric Urology (2014), http://dx.doi.org/10.1016/j.jpurol.2014.01.012
+
MODEL
4 became hypotrophic. A human chorionic gonadotropin stimulation test showed a normal response of testosterone in the patients 2 and 3.
Discussion When a Mullerian structure is unexpectedly encountered, the question of how a surgeon can diagnose PMDS without any relevant laboratory examinations arises. Some authors proclaim that genetic karyotype and hormonal essays are essential for diagnosis, and that reconstruction can be performed only when the diagnosis is confirmed [8,10]. However, PMDS is specifically characterized with normally phenotypic male external genitalia and a Mullerian structure. There is no disagreement on genotype and gender assignment owing to the fact that genetic types in all cases with PMDS are 46,XY karyotype, with the except of one patient witha 47,XXY karyotype [11]. A recent study stated that a firm diagnosis could be made with experience when PMDS is first suspected [9]. With regard to PMDS management in the pediatric population, the majority of the literature consists of case reports, and surgical outcomes are scarcely documented [3,4,9,10,12e14]. Partial removal or midline splitting of the MDR has previously been commonly accepted as it is deemed safe and effective in avoiding deferential injuries [4,12,13]. However, with sexual maturation, retained MDR might become hypertrophic, enlarge as a mass, and cause discomfort [15]. Furthermore, reports of Mullerian malignancy have aroused concern about the necessity of MDR excision [5e7,9,10]. Patients with a Mullerian structure left in situ are exposed to the risk of malignancy. Excision of MDR, which is our preference, is beneficial in removing potential malignancy and improving deferential compliance for orchiopexy. The major concern is that separating vasa deferentia from MDR may damage the vas deferens. Based on our experience, MDR can be totally excised and vasa deferentia can be preserved safely. Simultaneous hysterectomy and orchiopexy for PMDS has been advocated in a recent review [9]. With the advent of minimally invasive surgery, it has been utilized in dealing with symptomatic prostatic utricle, which shares embryological and anatomical similarities to PMDS. Several reports have claimed that laparoscopy provided excellent surgical views, which helped with delicate and fine moves [16e18]. Excision of MDR, rather than partial excision or midline splitting in PMDS, was also conducted via laparoscopy [9]. These techniques required meticulous and experienced surgical hands. However, when our patients were treated, there was no such setting available at our hospital. Undescended testis is the most common manifestation of PMDS; nevertheless, concomitant incarcerated hernia is rarely mentioned in the literature. Two out of three patients in this study presented with incarceration. Different surgical methods were used to cope with this particular situation: sending the testis back to the abdomen with external ring closure for patient 1, and herniorrhaphy for patient 3. Compared with the other four testes, there were inferior outcomes on the two affected testes. The previous operations cicatrized gonadal vessels, decreased vascular length,
C.H. Wei et al. and interfered with the following orchiopexy. Separating the hernia sac from the spermatic cord predisposed to even more severe fibrous scar and necessitated the Fowlere Stephen procedure in patient 3. Thus, when an incarcerated inguinal hernia occurs in a case of undescended testis at an age unsuitable for orchiopexy, simple reduction with an external ring closure, as was performed in patient 1, would result in less scarring and provide superior outcomes. Otherwise, for patients of a suitable age for orchiopexy, we assume that the reconstruction should be performed immediately once the diagnosis is made intraoperatively. Farikullah et al. [9] also recommended carrying out exploration and reconstruction under the same period of anesthesia. However, for surgeons unfamiliar with this rare entity, it is advocated to minimize tissue manipulation in emergency cases or just close the wound and leave tissues untouched in elective cases. Full understanding and preparation is key to improving surgical results. Excision of MDR is technically feasible. The short- and mid-term outcomes are favorable in terms of testicular size, location, and development in patients undergoing a single operation. From an endocrine standpoint, it also functioned well in all cases. For sophisticated surgeons, immediate reconstruction should be the priority when this abnormality is discovered incidentally at an age suitable for orchiopexy. Long-term surveillance and further study is necessary.
Conflict of interest None.
Funding None.
References [1] Chiang CY, Tsai JW, Wang HP, Sung YZ, Chang LC. Hernia uterine inguinale and seminoma in persistent Mullerian duct syndrome. Int J Surg Pathol 2010;18:440e2. [2] Mohammadi Sichani M, Heidarpour M, Dadkhah A, Rezvani M. Persistent mullerian duct syndrome with an irreducible inguinal hernia. Urol J 2009;6:298e300. [3] De U, Ghosh S, Chakraborty BP. Persistent mullerian duct syndromeea case report. J Indian Med Assoc 2002;100:527e8. [4] Vandersteen DR, Chaumeton AK, Ireland K, Tank ES. Surgical management of persistent mullerian duct syndrome. Urology 1997;49:941e5. [5] Thiel DD, Erhard MJ. Uterine adenosarcoma in a boy with persistent mullerian duct syndrome: first reported case. J Pediatr Surg 2005;40:e29e31. [6] Romero FR, Fucs M, Castro MG, Garcia CR, Fernandes Rde C, Perez MD. Adenocarcinoma of persistent mullerian duct remnants: case report and differential diagnosis. Urology 2005;66: 194e5. [7] Shinmura Y, Yokoi T, Tsutsui Y. A case of clear cell adenocarcinoma of the mullerian duct in persistent mullerian duct syndrome: the first reported case. Am J Surg Pathol 2002;26: 1231e4. [8] Carvajal Busslinger MI, Kuhlmann B, Kaiser G, Inaebnit D, Zuppinger K. Persistent mullerian duct syndrome: a case report. Eur J Pediatr 1993;152(Suppl. 2):S79.
Please cite this article in press as: Wei CH, et al., Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes, Journal of Pediatric Urology (2014), http://dx.doi.org/10.1016/j.jpurol.2014.01.012
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Excision of Mullerian duct remnant for persistent Mullerian duct syndrome [9] Farikullah J, Ehtisham S, Nappo S, Patel L, Hennayake S. Persistent Mullerian duct syndrome: lessons learned from managing a series of eight patients over a 10-year period and review of literature regarding malignant risk from the Mullerian remnants. BJU Int 2012;110:E1084e9. [10] Loeff DS, Imbeaud S, Reyes HM, Meller JL, Rosenthal IM. Surgical and genetic aspects of persistent mullerian duct syndrome. J Pediatr Surg 1994;29:61e5. [11] Delaney DP, Kolon TF, Zderic SA. Persistent Mullerian duct syndrome associated with 47,XXY genotype. J Urol 2004;171:852e3. [12] Parelkar SV, Gupta RK, Oak S, Sanghvi B, Kaltari D, Patil RS, et al. Laparoscopic management of persistent mullerian duct syndrome. J Pediatr Surg 2009;44:e1e3. [13] Shirasaki Y, Nagai A, Nasu Y, Iguchi H, Kumon H. Laparoscopic removal of Mullerian structures and orchiopexy for persistent Mullerian duct syndrome. Urology 2003;62:1121.
5
[14] Chaabane W, Jarboui L, Sahnoun A, Daoud E, Hadjsliman M, Fakhfekh H, et al. Persistent Mullerian duct syndrome with torsion of a transverse testicular ectopia: first reported case. Urology 2010;76:65e6. [15] di Clemente N, Belville C. Anti-Mullerian hormone receptor defect. Best Pract Res Clin Endocrinol Metab 2006;20: 599e610. [16] Barrena S, Aguilar R, Olivares P, Lobato R, Lopez Pereira P, Martinez Urrutia MJ, et al. Laparoscopic resection of the prostatic utricle in children. Cir Pediatr 2010;23:15e8 [Article in Spanish]. [17] Luo JH, Zhang D, Tu XA, Lu J, Zhao HW, Chen W. Laparoscopic excision of a large prostatic utricle revealed by haematuria: 1year follow-up. Andrologia 2012;44:214e6. [18] Yeung CK, Sihoe JD, Tam YH, Lee KH. Laparoscopic excision of prostatic utricles in children. BJU Int 2001;87:505e8.
Please cite this article in press as: Wei CH, et al., Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes, Journal of Pediatric Urology (2014), http://dx.doi.org/10.1016/j.jpurol.2014.01.012
MODEL
Journal of Pediatric Urology (2014) xx, 1e5
Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes C.H. Wei a, N.L. Wang a,*, W.H. Ting b, Y.C. Du c, Y.W. Fu a a
Department of Pediatric Surgery, Mackay Memorial Hospital, Taipei, Taiwan Department of Pediatric Endocrinology, Mackay Memorial Hospital, Taipei, Taiwan c Department of Pediatric Surgery, Mackay Memorial Hospital, Hsinchu, Taiwan b
Received 11 October 2013; accepted 17 January 2014
KEYWORDS Persistent Mullerian duct syndrome; Undescended testis; Mullerian duct anomaly; Inguinal hernia
Abstract Objective: In dealing with persistent Mullerian duct syndrome (PMDS), excision of Mullerian duct remnant (MDR) has been rarely mentioned in the past, but recent discussions have taken place. This study aimed to evaluate the operative feasibility and outcomes. Materials and methods: Three patients with PMDS operated on with excision of MDR between 2000 and 2009 were enrolled. Medical records were retrospectively collected and reviewed. Results: Bilateral undescended testis was manifested in all cases. Two patients presented with incarcerated hernia, requiring emergency herniorrhaphy at the ages of 6 months and 10 days, respectively. Reconstruction comprising simultaneous MDR excision and orchiopexy was made at the age of 1 year. MDR was incidentally found in another patient during operation for undescended testis. Immediate reconstruction was accomplished. Follow-up periods were 12.0, 3.5, and 2.5 years, respectively. Worse outcomes were noted on the two testes with repeated operations for incarcerated hernias, whereas the outcomes on the other four testes with a single operation were favorable. Conclusions: Excision of MDR is technically feasible, and provides favorable outcomes in cases of a single operation. For experienced surgeons, immediate reconstruction should be the priority when this abnormality is incidentally encountered at an age suitable for orchiopexy. ª 2014 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved.
Introduction Persistent Mullerian duct syndrome (PMDS) is a rare 46,XY disorder of sex development, characterized by the
presence of internal female productive organs in genotypically normal males. The etiology is absence of either Mullerian inhibiting substance or anti-Mullerian hormone receptor, subsequently blocking Mullerian duct regression.
* Corresponding author. Tel.: þ886 2 2543 3535x3060; fax: þ886 2 2543 3642. E-mail address: [email protected] (N.L. Wang). 1477-5131/$36 ª 2014 Journal of Pediatric Urology Company. Published by Elsevier Ltd. All rights reserved. http://dx.doi.org/10.1016/j.jpurol.2014.01.012
Please cite this article in press as: Wei CH, et al., Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes, Journal of Pediatric Urology (2014), http://dx.doi.org/10.1016/j.jpurol.2014.01.012
+
MODEL
2
C.H. Wei et al.
PMDS is frequently associated with a variety of testicular abnormalities, mostly cryptorchidism [1,2]. There is agreement that orchiopexy is indicated to preserve spermatogenesis function and prevent testicular malignancy [3,4]. Excision of Mullerian duct remnant (MDR) is thought to be technically demanding and to put patients at risk of deferential injuries [4]. The main concern is that the retained Mullerian structure may become malignant [5e9]. Optimal surgical management of PMDS has not been standardized. Here, we review our experience of excision of MDR, and evaluate surgical feasibility and outcome.Table 1
Materials and methods Excision of MDR was performed in three patients with PMDS at our institution between January 2000 and December 2009. Orchiopexy was performed simultaneously as bilateral undescended testis was present in all patients. With institutional review board approval, patient medical records were retrospectively reviewed; they included presentation, operative findings, and genetic and hormonal surveys, as well as the outcomes of testicular locations and development. The operative techniques and clinical courses of each case are described in the following sections.
Operative method By entering the peritoneal cavity via a low transverse abdominal incision, MDR could be detected posterior to the urinary bladder. Vasa deferentia were tightly attached on both sides of the MDR. Biopsies were performed on both gonads. With the assistance of loupes magnification, vasa deferentia were cautiously separated from MDR (Figs. 1 and 2). For the purpose of protecting the vasa deferentia, it was imperative to dissect closely along the margin of the MDR. Generally, tutting into the adventitia was necessary. Dissection was carried out down to the confluence where vasa deferentia joined the vagina (Fig. 3). MDR was resected
Table 1
Figure 1 Posterior view of Mullerian duct remnant (MDR). A Mullerian structure and normal male external genitalia were observed. A loose space between the MDR and the vas deferens could be inspected at the site of arrow; dissection began here toward the gonads.
(Fig. 4), while the stump was repaired. Vasa deferentia were detethered at this time and no longer restricted to orchiopexy. When a broad ligament was present, it was released to facilitate mobilization of the testes and spermatic cords. The original length of internal spermatic vessels was sufficient for orchiopexy; hence, the FowlereStephen procedure was generally dispensable. Thereafter, the testes were brought down through the inguinal canal and comfortably fixed to the bottom of the scrotum.
Patient 1 This male infant was born via in vitro fertilization with bilateral peeping-type undescended testes. An irreducible right inguinal hernia occurred at the age of 6 months.
Summary of surgical management for persistent Mullerian duct syndrome.
Author
Year
Cases (n)
Presentation
Surgery
Duration of follow-up
Outcome
Loeff et al. [10]
1994
2
MDR excision
NA
NA
Vandersteen et al. [4] De et al. [3] Shirasaki et al. [13] Parelkar et al. [12]
1997
1
Left MDR in situ
NA
NA
2002 2003 2009
1 1 1
Undescended testis; inguinal hernia Bilateral undescended testis; transverse ectopia Unilateral undescended testis Bilateral undescended testis Bilateral undescended testis
NA NA 6 mo
NA NA NA
Chaabane et al. [14]
2010
1
Transverse testicular ectopia
18 mo
Normal
Farikullah et al. [9]
2012
8
Undescended testis
0.5e5.0 y
NA
This study
2014
3
Undescended testis; incarcerated hernia
Left MDR in situ Partial MDR excision Split MDR in midline; laparoscopy Proximal salpingectomy; corporeal hysterectomy MDR excision; laparoscopy; preferred one-stage reconstruction MDR excision; preferred one-stage reconstruction
2.5e11.0 y
Favorable
Note. MDR Z Mullerian duct remnant; NA Z not available.
Please cite this article in press as: Wei CH, et al., Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes, Journal of Pediatric Urology (2014), http://dx.doi.org/10.1016/j.jpurol.2014.01.012
+
MODEL
Excision of Mullerian duct remnant for persistent Mullerian duct syndrome
Figure 2 Mullerian duct remnant was separated from vasa deferentia.
During the emergency operation, it was noticed that the right testis was connected to a Mullerian structure. The testis was biopsied. The herniated organs and the testis were reduced back to the peritoneal cavity, followed by closing of the external inguinal ring rather than herniorrhaphy. Reconstruction was made at the age of 1 year. There was some adhesion around the right testis and spermatic cord, but it did not seriously interfere with the procedure.
Patient 2 This patient was a 1-year-old boy with bilateral cryptorchidism. The right testis was at the groin, while the left one was impalpable. A Mullerian structure was detected incidentally by laparoscopy. Follicle-like structures were spotted on the surface of both gonads. When confirming normal testicular tissues by frozen sections, the decision
3
Figure 4 Mullerian duct remnant (MDR) was excised approximately 0.5 cm superior to the junction of vasa deferentia and MDR (arrow). The stump was repaired.
was made to conduct immediate reconstruction. Genetic and hormonal work-ups were done postoperatively.
Patient 3 This 10-day-old male infant presented with left incarcerated inguinal hernia. Both testes were undescended and palpable at the groin. A Mullerian structure was identified, along with the left testis in the hernia sac during the emergency operation. A gonadal biopsy was made prior to reducing herniated organs and the testis back to the peritoneal cavity. Herniorrhaphy was undertaken. During reconstruction at the age of 1.5 years, a dense fibrous scar surrounded left spermatic cord, shortened the spermatic vessels, and hampered orchiopexy. Therefore, the FowlereStephen procedure was needed to bring the testis down to the scrotum.
Results
Figure 3 Dissection continued down to the confluence where vasa deferentia joined the vagina. Note the broad ligament (arrow), which should be lysed in order to de-tether vasa deferentia.
The karyotypes of our three patients were 46,XY, with intraoperative gonadal biopsies referred to testicular tissues. Pathology of MDR showed uterine and epididymal tissues. Hormonal essays, including luteinizing hormone (LH), follicle stimulating hormone (FSH), testosterone, and estradiol, were within the prepubertal range. The followup periods were 12.0, 4.5 and 3.5 years in patient 1, patient 2, and patient 3 respectively. No retrovesical mass was identified by sonography in any of the patients. In patient 1, both testes had been growing according to puberty, but the right testis was relatively smaller. The left testis was well positioned at the bottom of the scrotum, while the location of the right testis was higher at mid-scrotum. Tanner stage was genitalia with stage 5 and pubic hair with stage 4. Pubertal hormone surveys illuminated normal testosterone and LH level, as well as a borderline elevated FSH level. In patient 2, both testes were equal-sized and were located at the bottom of the scrotum. In patient 3, the size and position of the right testis were correct, whereas left testis
Please cite this article in press as: Wei CH, et al., Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes, Journal of Pediatric Urology (2014), http://dx.doi.org/10.1016/j.jpurol.2014.01.012
+
MODEL
4 became hypotrophic. A human chorionic gonadotropin stimulation test showed a normal response of testosterone in the patients 2 and 3.
Discussion When a Mullerian structure is unexpectedly encountered, the question of how a surgeon can diagnose PMDS without any relevant laboratory examinations arises. Some authors proclaim that genetic karyotype and hormonal essays are essential for diagnosis, and that reconstruction can be performed only when the diagnosis is confirmed [8,10]. However, PMDS is specifically characterized with normally phenotypic male external genitalia and a Mullerian structure. There is no disagreement on genotype and gender assignment owing to the fact that genetic types in all cases with PMDS are 46,XY karyotype, with the except of one patient witha 47,XXY karyotype [11]. A recent study stated that a firm diagnosis could be made with experience when PMDS is first suspected [9]. With regard to PMDS management in the pediatric population, the majority of the literature consists of case reports, and surgical outcomes are scarcely documented [3,4,9,10,12e14]. Partial removal or midline splitting of the MDR has previously been commonly accepted as it is deemed safe and effective in avoiding deferential injuries [4,12,13]. However, with sexual maturation, retained MDR might become hypertrophic, enlarge as a mass, and cause discomfort [15]. Furthermore, reports of Mullerian malignancy have aroused concern about the necessity of MDR excision [5e7,9,10]. Patients with a Mullerian structure left in situ are exposed to the risk of malignancy. Excision of MDR, which is our preference, is beneficial in removing potential malignancy and improving deferential compliance for orchiopexy. The major concern is that separating vasa deferentia from MDR may damage the vas deferens. Based on our experience, MDR can be totally excised and vasa deferentia can be preserved safely. Simultaneous hysterectomy and orchiopexy for PMDS has been advocated in a recent review [9]. With the advent of minimally invasive surgery, it has been utilized in dealing with symptomatic prostatic utricle, which shares embryological and anatomical similarities to PMDS. Several reports have claimed that laparoscopy provided excellent surgical views, which helped with delicate and fine moves [16e18]. Excision of MDR, rather than partial excision or midline splitting in PMDS, was also conducted via laparoscopy [9]. These techniques required meticulous and experienced surgical hands. However, when our patients were treated, there was no such setting available at our hospital. Undescended testis is the most common manifestation of PMDS; nevertheless, concomitant incarcerated hernia is rarely mentioned in the literature. Two out of three patients in this study presented with incarceration. Different surgical methods were used to cope with this particular situation: sending the testis back to the abdomen with external ring closure for patient 1, and herniorrhaphy for patient 3. Compared with the other four testes, there were inferior outcomes on the two affected testes. The previous operations cicatrized gonadal vessels, decreased vascular length,
C.H. Wei et al. and interfered with the following orchiopexy. Separating the hernia sac from the spermatic cord predisposed to even more severe fibrous scar and necessitated the Fowlere Stephen procedure in patient 3. Thus, when an incarcerated inguinal hernia occurs in a case of undescended testis at an age unsuitable for orchiopexy, simple reduction with an external ring closure, as was performed in patient 1, would result in less scarring and provide superior outcomes. Otherwise, for patients of a suitable age for orchiopexy, we assume that the reconstruction should be performed immediately once the diagnosis is made intraoperatively. Farikullah et al. [9] also recommended carrying out exploration and reconstruction under the same period of anesthesia. However, for surgeons unfamiliar with this rare entity, it is advocated to minimize tissue manipulation in emergency cases or just close the wound and leave tissues untouched in elective cases. Full understanding and preparation is key to improving surgical results. Excision of MDR is technically feasible. The short- and mid-term outcomes are favorable in terms of testicular size, location, and development in patients undergoing a single operation. From an endocrine standpoint, it also functioned well in all cases. For sophisticated surgeons, immediate reconstruction should be the priority when this abnormality is discovered incidentally at an age suitable for orchiopexy. Long-term surveillance and further study is necessary.
Conflict of interest None.
Funding None.
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Please cite this article in press as: Wei CH, et al., Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes, Journal of Pediatric Urology (2014), http://dx.doi.org/10.1016/j.jpurol.2014.01.012
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Excision of Mullerian duct remnant for persistent Mullerian duct syndrome [9] Farikullah J, Ehtisham S, Nappo S, Patel L, Hennayake S. Persistent Mullerian duct syndrome: lessons learned from managing a series of eight patients over a 10-year period and review of literature regarding malignant risk from the Mullerian remnants. BJU Int 2012;110:E1084e9. [10] Loeff DS, Imbeaud S, Reyes HM, Meller JL, Rosenthal IM. Surgical and genetic aspects of persistent mullerian duct syndrome. J Pediatr Surg 1994;29:61e5. [11] Delaney DP, Kolon TF, Zderic SA. Persistent Mullerian duct syndrome associated with 47,XXY genotype. J Urol 2004;171:852e3. [12] Parelkar SV, Gupta RK, Oak S, Sanghvi B, Kaltari D, Patil RS, et al. Laparoscopic management of persistent mullerian duct syndrome. J Pediatr Surg 2009;44:e1e3. [13] Shirasaki Y, Nagai A, Nasu Y, Iguchi H, Kumon H. Laparoscopic removal of Mullerian structures and orchiopexy for persistent Mullerian duct syndrome. Urology 2003;62:1121.
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[14] Chaabane W, Jarboui L, Sahnoun A, Daoud E, Hadjsliman M, Fakhfekh H, et al. Persistent Mullerian duct syndrome with torsion of a transverse testicular ectopia: first reported case. Urology 2010;76:65e6. [15] di Clemente N, Belville C. Anti-Mullerian hormone receptor defect. Best Pract Res Clin Endocrinol Metab 2006;20: 599e610. [16] Barrena S, Aguilar R, Olivares P, Lobato R, Lopez Pereira P, Martinez Urrutia MJ, et al. Laparoscopic resection of the prostatic utricle in children. Cir Pediatr 2010;23:15e8 [Article in Spanish]. [17] Luo JH, Zhang D, Tu XA, Lu J, Zhao HW, Chen W. Laparoscopic excision of a large prostatic utricle revealed by haematuria: 1year follow-up. Andrologia 2012;44:214e6. [18] Yeung CK, Sihoe JD, Tam YH, Lee KH. Laparoscopic excision of prostatic utricles in children. BJU Int 2001;87:505e8.
Please cite this article in press as: Wei CH, et al., Excision of Mullerian duct remnant for persistent Mullerian duct syndrome provides favorable short- and mid-term outcomes, Journal of Pediatric Urology (2014), http://dx.doi.org/10.1016/j.jpurol.2014.01.012
