14 Testicular seminoma in an infertile adult patient with persistent mullerian duct syndrome

Introduction Persistent Mullerian duct syndrome (PMDS) is an autosomal recessive disorder characterized by the persistence of Mullerian duct derivatives (uterus, cervix, fallopian tubes and proximal vagina) in a phenotypically and karyotypically male patient. This internal male pseudohermaphroditism is usually an incidental diagnosis in children who present with cryptorchidism and inguinal hernia or in adults with cryptorchidism, infertility or an abdominal mass. PMDS is associated with a higher risk of malignant transformation of gonads. Here we present a case of testicular seminoma in an adult infertile patient with persistent MDS. The patient had laparoscopic bilateral orchidectomy with removal of fallopian tubes and commenced on long-term testosterone supplement therapy. Subjects and materials A 42 years old morbidly obese (body mass index 57) infertile male patient had an elective admission for bariatric surgery. During pre-operative assessment, he was investigated for infertility and had an inguinoscrotal ultrasound to locate undescended testes. Postoperatively, he had MRI abdomen and pelvis. Six months later he had an urgent contrast enhanced CT abdomen and pelvis to rule out the causes of his right flank pain. Result Pre-operative inguinoscrotal ultrasound revealed no testicular tissue in either the inguinal canals or the scrotum [figure 1]. Genetic screening confirmed 46 XY Karyotyping and hormonal profile showed raised FSH (26.3 IU/L) and LH (14.2 IU/L) and normal testosterone level (11.3 ng/ml). MRI pelvis confirmed the presence of a small, rudimentary uterus and bilateral fallopian tubes and identified bilateral adnexal masses (gonads) measuring about 3×2 cm. Emergency contrast enhanced CT abdomen [figure 1] showed a complex heterogeneous mass containing some air foci in right iliac fossa with twisted engorged vascular pedicle unrelated to bowel loops, presumed to be a twisted gonad. Following imaging evaluation, patient underwent laparoscopic removal of this mass, mildly congested appendix, normal looking left gonad and both fallopian tubes. Rudimentary uterus was left behind undisturbed. Histopathological analysis confirmed these gonads to be testicles with marked atrophic changes. Right sided testicle showed haemorrhagic infarction consistent with torsion along with a 5.5 cm classic seminoma [figure 1]. Full circumference fallopian tube and fimbria were identified bilaterally. Because of bilateral orchidectomy with normal male karyotype and normal male secondary sexual characters, regular testosterone hormone replacement therapy (testosterone 1000 mg/every 3 month) was instituted. Conclusion Patients with persistent Mullerian duct syndrome or internal male pseudohermaphroditism have 46 XY karyotype, near normal development of secondary sexual characters and persistent Mullerian duct structures i.e., uterus, cervix, fallopian tubes and proximal vagina. Our patient was diagnosed very late possibly due to cultural issues and stigmata attached to pseudohermaphroditism.