A rare form of male pseudohermaphroditism-Persistent Mullerian Duct Syndrome

J Surg Case Rep. 2022 Dec 30;2022(12):rjac596. doi: 10.1093/jscr/rjac596. eCollection 2022 Dec.

Abstract

Persistent Mullerian Duct Syndrome (PMDS) is a rare disorder of defective sexual development in males. It is characterized by aberrant synthesis or inadequate action of Mullerian inhibiting factor resulting in derivatives of Mullerian duct, i.e. uterus, fallopian tube and upper vagina, to persist in a phenotypic male with 46XY karyotype. Here, we report a 19-year-old male with bilateral undescended testes. Further evaluation revealed that the patient had both his testes placed intra-abdominally along with a rudimentary uterus.

Keywords: Persistent Mullerian Duct Syndrome; bilateral undescended testes; subtotal hysterectomy and bilateral orchiectomy.

Publication types

  • Case Reports