CASE REPORT A Simplified Management of Transverse Testicular Ectopia in Patients with Persistent Mullerian Duct Syndrome Massimiliano Silveri1*, Antonio Zaccara1, Marco Cappa2 1Department of Surgery, Ospedale Pediatrico Bambino Gesù, Rome, Italy. 2Department of Pediatric Endocrinology, Ospedale Pediatrico Bambino Gesù, Rome, Italy. *Correspondence: Department of Surgery , Ospedale Pediatrico Bambino Gesù, Rome, Italy. Piazza Sant’Onofrio 4, 00100, Rome - Italy. Phone: 0039668593358. Fax: 0039668593373. E mail: massimiliano.silveri@opbg.net. Received October 2019 & Accepted April 2020 Persistent müllerian duct syndrome (PMDS) in the majority of cases is discovered during surgery for inguinal hernia or cryptorchidism. A transverse testicular ectopia (TTE) with cryptorchidism may be very rarely associated to PMDS. Assuming that müllerian remnants have a very low malignant degeneration potential if compared to the malignancy risk of an undescended and not relocated testis, we describe a simplified surgical technique of orchiopexy that avoids an extensive anatomical dissection, in this way minimizing the risk of losing the deferential blood supply to the testis. Keywords: radical cystectomy; ileal conduit, cutaneous ureterostomy; orthotopic neobladder; appendix INTRODUCTION Persistent müllerian duct syndrome (PMDS) is frequently discovered during surgery for inguinal hernia or cryptorchidism(1). In this disorder of sex development (DSD), the patients show müllerian remnants located at scrotal, inguinal or intraabdominal level. A transverse testicular ectopia (TTE) with cryptorchidism may be rarely associated to PMDS because of defect in regression of fetal müllerian structures and concomitant aberrant testicu- lar descent(2). In these rare cases, a planned surgical approach is advisable confirming the opportunity to perform, as a first step, a laparoscopic diagnostic approach in all cases of unpalpable testis. We describe a simplified orchiopexy technique performed in one of these rare cases in order to prevent devascu- larisation or direct damage to the vas. Urology Journal/Vol 18 No. 2/ March-April 2021/ pp. 237-239. [DOI: 10.22037/uj.v0i0.5685] Figure 1. Ultrasound showing two separate gonadal structures both located in the right inguinal channel. Figure 2. Laparoscopy showing the anatomy at the level of the right internal inguinal ring, with a rudimentary uterus and a rudi- mentary tube interposed between the two testes. CASE REPORT A 2-year-old boy came to our attention for a left impal- pable testis. Following a neonatal diagnosis of bilateral cryptorchidism, the baby underwent an ultrasound (US) at 6 months of age showing a right testis in the scrotum and an extremely reduced gonadal structure approxi- mately at the level of the left inguinal ring. However, the evidence of two separate and palpable structures both located in the right inguinal channel (Figure 1) alerted our intersex team about the possibility of an un- derlying DSD. A HCG test for the exploration of Ley- digian function was normal and karyotype resulted as male 46, XY. Technique The child underwent a laparoscopy (Figure 2) show- ing the two normal testes, both located proximally to the right inguinal ring, with a rudimentary uterus and rudimentary tubes interposed and a not clear anatomy of the left vas. The baby underwent an open procedure through a right inguinal incision (Figure 3). Separation of the vas from the remnants was not possible except, most likely, with its sacrifice. Therefore, a simplified pull-through of the complete anatomical package with repositioning of the left testis through a partial viola- tion in the septal scrotum, was successfully attempted (Figure 4). At 3 years follow-up, both testes are correctly located in the scrotum with a progressive catch-up growth high- lighted by clinical (twice a year) and US (once a year) controls. DISCUSSION This eased surgical approach, in this particular category of patients, can be achievable only with the assumption that müllerian remnants do not have any malignant de- generation potential(3). Persistent müllerian duct syn- drome (PMDS) is a rare form of DSD in which a phe- notypically normal male has müllerian structures that fail to regress. This embryological event is upregulated by a glycoprotein produced by Sertoli cells and called Müllerian inhibiting substance (MIS) )(4). Mutations in Case Report 413 Figure 3. Surgical view of the műllerian structures and both the gonads exteriorized through an inguinal incision. Figure 4. Repositioning of both testes in their respective anatomical sites obtained through a trans-scrotal approach. Vol 18 No 2 March-April 2021 238 Surgical management of TTE in PMDS-Silveri et al. MIS and MIS receptor genes, mapped to chromosome 19 (MIS) and chromosome 12 (MIS type II specific re- ceptor) cause lack of MIS secretion or lack of transloca- tion to the surface membrane with inactivity of the MIS receptor(5). Despite many hypotheses on the relationship between PMDS and TTE(6,7), the simple anatomic close contiguity of the testis to the persistent műllerian ducts is believed to be the cause of cryptorchidism in PMDS. There is a dualism in literature about whether or not to remove műllerian structures in order to prevent a po- tential malignant degeneration(3,8). Recent description of gynaecological malignancies in retained műllerian structures(9) is estimated in 3-8%. The overall incidence of malignant transformation in PMDS testes is simi- lar to the rate in abdominal testes in otherwise normal men(9,10) (18%), in this way representing another argu- ment in favour of early orchiopexy. Starting from these assumptions, we successful- ly adopted the above-described approach(11) as the gold-standard management in these rare cases. In our opinion, as suggested by the normal pattern of our biop- sied gonads, even the previously reported foreclosures about the fertility potential of PMDS testes should be reconsidered assuming that the only real limit is proba- bly cryptorchidism. A close and long term instrumental and clinical follow-up is mandatory above all for that concerning the risk of possible late onset gynaecolog- ical malignancies. REFERENCES 1. Picard JY, Cate RL, Racine C et al. The Persistent Műllerian Duct Syndrome: an update based upon a personal experience of 157 cases. Sex Dev. 2017; 11:109-125 2. Wuerstle M, Lesser T, Hurwitz R et al. Persistent műllerian duct syndrome and transverse testicular ectopia: embryology, presentation, and management. J Ped Surg. 2007;42:2116-2119 3. Vandersteen DR, Chaumeton AK, Ireland K et al. Surgical management of persistent műllerian duct syndrome. Urology. 1997; 49:941-945 4. Guerrier D, Tran D, Vanderwinden JM et al. The persistent műllerian duct syndrome: a molecular approach. J Clin Endocrinol Metab. 1989;68:45-52 5. Bartlett JE, Lee SMY, Mishina Y et al. Gubernacular development in műllerian inhibiting substance receptor-deficient mice. BJU Int. 2002;89:113-118 6. Gauderer MW, Grisoni ER, Stellato TA et al. Transverse testicular ectopia. Pediatr Surg. 1982;17:1-2 7. Asero L, Meli R. The persistent Műllerian duct syndrome with transverse testicular ectopia. A hypothesis on the role of Műllerian inhibiting factor in the process of testicular migration. Pediatr Med Chir. 1997;19:223-225 8. Shinmura Y, Yokoi T, Tsutsui Y. A case of clear cell adenocarcinoma of the műllerian duct in persistent műllerian duct syndrome: the first reported case? Arch Pathol Lab Med. 2000;124:694-698 9. Farikullah J, Ehtisham S, Nappo S, Patel L, Hemayake S. Persistent műllerian 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 Műllerina remnants. BJU Int 2012;110:E1084-9) 10. Alpo BF, Demiren Z, Gűragaḉ A et al. Persistent Műllerian duct syndrome with transverse testicular ectopia and seminoma. Int Urol Nephrol 2014; 46:1557-62 11. Naouar S, Maazoun K, Sahnoun L et al. Transverse testicular ectopia: a three-case report and review of the literature. Urology 2008;71:1070-73 Case Report 212Case Report 428 Surgical management of TTE in PMDS-Silveri et al. Case Report 239