Persistent Müllerian Duct Syndrome (PMDS): Types 1 and 2

Persistent Müllerian Duct Syndrome is a rare, inherited disorder of sex development (DSD), affecting phenotypically normal males with the karyotype (46, XY). It is characterized with the existence of the uterus and fallopian tubes (female reproductive organs) alongside the male reproductive organs. Other clinical manifestations of this syndrome are the testes and female reproductive organs disposition, transverse testicular ectopia, and infertility. It can also be associated with other features such as hematospermia and an increased risk of cancer. For the first time, Harbison et al. (1991) reported a case of Persistent Müllerian Duct Syndrome. The patient was diagnosed with a right inguinal hernia at the age of 1 month. During surgery, it was noticed that both gonads were placed within the right hernia sac. There were unremarkable epididymis, vas deferens, and a fallopian tube attached to each gonad. Moreover, an infertile uterus was observed between the fallopian tubes. So far, various ages of onset have been reported: infancy, childhood, adolescence, and adult. However, its exact prevalence is still unknown (OMIM n.d.).