Male form of persistent Mullerian duct syndrome type I (hernia uteri inguinalis) presenting as an obstructed inguinal hernia: a case report

INTRODUCTION: Persistent Mullerian duct syndrome is a rare form of male pseudo-hermaphroditism characterized by the presence of Mullerian duct structures in an otherwise phenotypically, as well as genotypically, normal man; only a few cases have been reported in the worldwide literature. We report the case of a 30-year-old man with unilateral cryptorchidism on the right side and a left-sided obstructed inguinal hernia containing a uterus and fallopian tube (that is, hernia uteri inguinalis; type I male form of persistent Mullerian duct syndrome) coincidentally detected during an operation for an obstructed left inguinal hernia. CASE PRESENTATION: A 30-year-old South Indian man was admitted to our facility with a left-sided obstructed inguinal hernia of one day's duration. He had a 12-year history of inguinal swelling and an absence of the right testis since birth. Our patient had well developed masculine features. Local physical examination revealed a left-sided obstructed inguinal hernia with an absence of the right testis in the scrotum. Exploration of the inguinal canal revealed an indirect inguinal hernia containing omentum, the left corner of the uterus and a left fallopian tube. Extension of the incision revealed a well formed uterus, cervix and upper part of the vagina attached to the prostate by a thick fibrosed band. Total excision of the uterus, bilateral fallopian tubes and right testis was performed. A biopsy was taken from the left testis. The operation was completed by left inguinal herniorraphy. Histopathological examination of the hernial contents was consistent with that of a uterus and fallopian tubes without ovaries. Both testes were atrophied, with complete arrest of spermatogenesis. Post-operative karyotype analyses were negative for 46,XY and Barr bodies on buccal smear. A semen examination revealed azoospermia with a low serum testosterone level. CONCLUSIONS: In cases of unilateral or bilateral cryptorchidism associated with inguinal hernia, as in our patient's case, the possibility of persistent Mullerian duct syndrome should be kept in mind in order to prevent further complications such as infertility and malignant change. Hernia uteri inguinalis is the type I male form of persistent Mullerian duct syndrome, characterized by one descended testis and herniation of the ipsilateral corner of the uterus and fallopian tube into the inguinal canal.