Inguinal and Scrotal Swellings in Adults Can Be Persistent Mullerian Duct Syndrome with Tumors

Abstract

Persistent Mullerian duct syndrome (PMDS) is a rare form of pseudohermaphroditism in males with a normal phenotype and the 46,XY karyotype. PMDS is characterized by the presence of persistent Mullerian structures (uterus, fallopian tubes, and upper vagina), owing to the deficiency of anti-Mullerian hormone. PMDS is usually incidentally recognized during surgery or laparoscopy for cryptorchidism, with or without an inguinal hernia. Tumor development in PMDS is not uncommon. In most cases, an accompanying tumor develops from an undescended testis, and the most common histology is seminoma. Tumors that originated from Mullerian structures are less frequent. Leiomyoma, originated from the rudimentary uterus in PMDS, is very rare, and only two cases have been reported in the literature. In this report, we present two PMDS cases, which were complicated by tumor development. In the first case, there were multiple leiomyomas in the uterine wall, and in the second one, there was a seminoma in the same-side testis.