Persistent Müllerian duct syndrome: A surgical surprise and management during laparoscopic transabdominal pre-peritoneal repair.

A 37-year-old married male presented with complaints of gradually increasing swelling in both scrotums for 5 years. Examination revealed partially reducible bilateral inguinoscrotal hernia with cryptorchidism. Ultrasound scan done showed bilateral testis close to the internal ring. The patient was counselled about the high risk of malignancy in retained testis, but he consented against orchidectomy. He was scheduled for laparoscopic transabdominal pre-peritoneal (TAPP) mesh hernia repair with bilateral orchidopexy. Peroperatively, there was omentum in the indirect inguinal hernia sacs and bilateral intraabdominal testis [Figure 1a and b ]. There was also a rudimentary uterus with tubes on either side [ Figure 1c ]. (a) Indirect inguinal hernia containing omentum. (b) Undescended testis, rudimentary uterus and tubes. (c) Bilateral undescended testis, rudimentary uterus with both Fallopian tubes and bilateral indirect inguinal hernia. (d) Biopsy of the right testis. (e) Biopsy of the left testis Omentum was reduced from the hernial sac, and bilateral testicular biopsy was taken from both the poles to confirm the presence of testicular tissue and to exclude malignancy and ovarian tissue [Figure 1d and e ]. Definitive hernia repair was deferred. Karyotyping confirmed XY chromosome, and the diagnosis of PMDS was made. Histopathology of testicular biopsy confirmed testicular tissue with no evidence of dysplasia or malignancy. He was scheduled for a definitive procedure after 2 weeks. He underwent laparoscopic bilateral orchidopexy with [Figure 2a – d ] bilateral TAPP mesh repair [Figure 2e and f ]. The decision for orchidopexy was taken considering the patient’s wishes to retain the testes, despite the higher risk of malignancy even following correction. The uterus was bisected and endometrium was scraped to prevent the development of endometriosis in the future. Müllerian duct structures were retained due to the high risk of damage to vas deferens during dissection. (a and b) Laparoscopic mobilisation of testis and cord structure. (c) Retrieval of mobilised testis and cord structures by incision on distal scrotal sac. (d) Orchidopexy. (e and f) Bilateral TAPP mesh repair. TAPP: Transabdominal pre-peritoneal Postoperatively the patient followed up after 7 days, 1 month, 6 months and then yearly. At 6-year follow-up, this patient has had no recurrence of inguinal hernias or the features of malignancy in the retained testis.

Persistent Müllerian duct syndrome (PMDS) also known as hernia uteri inguinale is an intersex disorder which occurs due to the failure of regression of Müllerian structures (uterus and Fallopian tubes) in genotypical and phenotypical males. There is no underdevelopment of Wolffian structures (epididymis, vas deferens and seminal vesicle), but there is an incomplete regression of Müllerian structures. Anti-Müllerian hormone (AMH) is produced in sertoli cells and induces regression of Müllerian duct structures, hence also known as Müllerian-inhibiting substance.[ 1 ] Due to the inactivating mutations altering the function of AMH or the receptor for AMH, regression of Müllerian structures is prevented in an otherwise normal male.[ 2 ] It is often diagnosed in infancy or early childhood. In the literature, sterility is a rule in such cases, but some cases of normal spermatogenesis have been reported.[ 3 ] This case report is unique as our patient presented in adulthood, and PMDS was diagnosed during surgery as a surprise and was managed in two stages.

Intersex disorders are often misdiagnosed or diagnosis in most cases is delayed due to varied presentation. The most common differential diagnosis of PMDS is mixed gonadal dysgenesis characterised by the presence of both testis and ovaries and may have rudimentary Müllerian and Wolffian structures. PMDS is a rare disorder of male internal pseudohermaphroditism with normal secondary sexual character and XY karyotype. It is often diagnosed in infancy or early childhood, but our patient presented with above-mentioned symptoms in adulthood. Testicular differentiation is normal in most cases, but the development of male excretory ducts embedded in mullein structures may lack proper communication between the testis and vas deferens. This may lead to complicated dissection during the excision of Müllerian structures.[ 4 ] In our case, Müllerian duct structures were retained due to the high risk of damage to vas deferens during dissection. High degree of suspicion is required in men presenting with bilateral inguinal hernia with cryptorchidism or unilateral inguinal hernia with palpable mass above normally descended testis.[ 5 ] Ultrasonography and karyotyping must be performed for detailed evaluation in cases of suspicion. Patient education and appropriate long-term follow-up are mandatory to recognise early features of malignancy in the retained testis. About 5%–10% of men with diagnoses of testicular cancer provide a history of cryptorchidism. The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given his consent for his images and other clinical information to be reported in the journal. The patient understands that his name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed. Nil. There are no conflicts of interest.