TRANSVERSE TESTICULAR ECTOPIA WITH PERSISTENT MULLERIAN DUCT SYNDROME: A CASE REPORT.
Transverse testicular ectopia (TTE) is a rare anomaly in which both testes reside in the same side of scrotum1. Persistent Mullerian Duct Syndrome (PMDS), a rare form of male pseudo-hermaphroditism, is characterized by the persistence of Mullerian duct structures (uterus, fallopian tubes and upper two-thirds of vagina) in an otherwise normally virilized male (46XY)2. Both occurring together is quite rare, and only 150 cases are on record3. PMDS is incidentally discovered during herniotomy, orchidopexy or abdominal exploration for other reasons. It may present as an inguinal mass (classical hernia uterine inguinalis), or very rarely as TTE with or without inguinal hernia4. Unless the surgeon is aware of the condition inappropriate procedure may be performed. We report a case of a male baby presenting with left undescended testis, transverse testicular ectopia and on exploration persistent Mullerian duct structure was found.
A male baby of 11 months presented with undescended left testis since birth. On examination, no testis was found in inguinal canal or perineum. Right testis was normal. There was another small globular mass at the neck of right hemiscortum which was thought to be a right encysted hydrocele. Ultrasound showed transverse testicular ectopia. Exploration of the left inguinal canal revealed a gubernaculum. On pulling on this vas and vessels became visible and on further traction left testis popped out from the neck of right hemiscortum, through the right deep ring and into the wound in the left groin. This also caused right testis to be pulled up in right inguinal canal. So the right inguinal canal was also explored. This however revealed midline persistent Mullerian duct structures. These had to be excised to allow mobilization of both testes (Fig.1) saving vas and vessels on both sides. Both testes were nearly equal in volume, shape and consistency. Bilateral orchidopexies were done (Fig.2).
Post operatively the child did well and was discharged on the next day. Biopsy of the mid line structures was confirmed as persistent Mullerian duct structure and left testicular tissue biopsy also confirmed a normal testis.
Transverse testicular ectopia (TTE) is a rare entity which occurs due to migration of both testes into same hemiscortum. The ectopic testis may be located at the deep inguinal ring, inguinal canal or in contralateral hemiscortum. In 1886, the first case of transverse testicular ectopia was described by von Lenhossek as postmortem findings3. The embryological etiology of TTE is not agreed upon. Adhesion or fusion of developing Wolffian ducts, defective development of ipsilateral gubernaculum, testicular adhesion, defective formation of the internal inguinal ring, traction on a testis by persistent Mullerian structures and possibility of the development of both testes from the same germinal ridge, are various postulated theories for the ectopic testis. This anomaly is also called "testicular pseudo duplication", "unilateral double testis" or "transverse aberrant testicular maldescent". Jordan in 1895 described the association of TTE with persistent Mullerian ducts5.
Embryologically, Mullerian ducts in the female develop into vagina, uterus and oviducts. These ducts disappear in males, while vestigial vagina masculina and the appendix testis are the remnants. This condition is caused by a defect in the synthesis or receptor of the Mullerian-inhibiting substance (MIS), also known as the anti-Mullerian hormone (AMH) and the Mullerian-inhibiting factor (MIF)4. MIS is a 145-kDa glycoprotein produced by immature Sertoli cells and binds to a specific type II serinethreonine kinase transmembrane receptor (MISR-II). Mutations of the MIS gene or the MISR-II gene have been identified in PMDS patients with autosomal recessive transmission6.
PMDS is a rare form of male pseudohermaphroditism characterized by the presence of developing uterus and fallopian tube in a 46XY and otherwise genotypically normal male. The association between a persistent Mullerian duct and transverse testicular ectopia is even rarer. This association of TTE with PMDS is considered to be due to the mechanical presence of remnants of Mullerian structures that can further hamper testicular descent into scrotum. In all reported cases, the oldest and youngest patients are 77 years and 3 days old, respectively7.
TTE has been classified as:8
* Type I - Accompanied only by hernia (40-50%)
* Type II - Accompanied by PMDS (30%)
* Type III - Associated with disorders other than PMDS e.g. hypospadias, true or pseudo hermaphroditism and other scrotal abnormalities (20%).
Clinical presentations include hernia, undescended testis, true or pseudo hermaphroditism, but classically, this condition presents as hernia on one side and absent testis on the contra lateral side. However, like in our case majority of the cases are incidentally picked up on exploration for inguinal hernia or undescended testis7. Preoperative diagnosis can be made on ultrasound, computerized tomography, magnetic resonance imaging or magnetic resonance venography. In our case the sonologist mistook the aberrant testis as hydrocele of the cord. Laparoscopy is not only useful in diagnosis but maybe used in the surgical correction of TTE and associated anomalies. Laparoscopic optical camera could also be introduced through the opened hernia sac9.
Aim of treatment is the identification of associated problems, search for the Mullerian Duct structures and to bring both testes in to the respective hemiscortum. Trans-septal orchidopexy is highly recommended to manage TTE when vas deferens is fused together; extra peritoneal transposition of the testis is the alternative approach10. In the past excision of the mid line Mullerian structures was always recommended because of the possible chances of infection and malignancy in the remnants. However, excision may not be done if there is possibility of damage to the vas and blood supply of the testis, which is closely approximated7. Excision or splitting of the Mullerian structures is advocated when easy orchidopexy is not possible. In our case, we chose to dissect carefully and excise the Mullerian Duct structure and do the bilateral orchidopexies in the respective hemiscortum.
Long-term postoperative follow-up is mandatory due to some evidence of increased malignancy rate. Yolk sac tumor, seminoma, teratoma and embryonal carcinoma are the malignancies reported in literature11.
The purpose of reporting this case is that TTE should be suspected in patients who have unilateral inguinal hernia associated with contra lateral non-palpable testis. In such cases, at least ultrasonography should be done prior to the repair of hernia to evaluate the possible presence of TTE. Post operative follow-up is imperative with special regards to malignancy and infertility.
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6. Hoshiya M, Christian BP, Cromie WJ, Kim H, Zhan Y, MacLaughlin DT, et al. Persistent Mullerian duct syndrome caused by both a 27-bp deletion and a novel splice mutation in the MIS type II receptor gene. Birth Defects Res Part A Clin Mol Teratol 2003; 67: 868-74.
7. Hughes DT, Croitoru DP. Case report: Crossed testicular ectopia. J Pediatr Surg. 2007; 42: 1620-2.
8. Loeff D S, Imbeaud S, Reyes H M. Surgical and genetic aspects of persistent Mullerian duct syndrome. J Pediatr Surg 1994; 29: 61-65.
9. Fairfax CA, Skoog SJ. The laparoscopic diagnosis of transverse testicular ectopia.J Urol 1995; 153: 477-8.
10. Naouar S, Maazoun K, Sahnoun L, Jouini R, Ksia A, Elezzi O, et al. Transverse testicular ectopia: a three-case report and review of the literature. Urology 2008; 71: 1070-3.
11. Buchholz NP, Biyabani R, Herzig MJU. Persistent Mullerian duct syndrome. Eur Urol 1998; 34: 230-2.
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|Author:||Rasool, Naima; Safdar, C. Aqeel; Ahmad, Asrar; Kanwal, Shehla; Boota, Mohammad|
|Publication:||Pakistan Armed Forces Medical Journal|
|Article Type:||Clinical report|
|Date:||Jun 30, 2012|
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