Persistent Mullerian Duct Syndrome: A case report

Abstract

The Müllerian duct is the structure that later develops into the female reproductive tract during embryology.   It usually obliterates in males. Persistent Müllerian duct syndrome is a disorder characterized by the presence of female reproductive organs in a male individual. The common presentations in males are undescended testes or inguinal hernias. The uterus and fallopian tubes are noted during surgery. This syndrome is due to deficiency of fetal anti-Müllerian hormone which is caused by mutations of the gene for anti-Müllerian hormone or anti-Müllerian hormone receptor. The testosterone levels are normal that’s why the development of external genitalia is normal. Imaging investigations are the key to establishing the diagnosis. The treatment modality is surgical for replacing the gonads into their normal position and probably a hysterectomy.  We reported a case of a 30-year-old male presented with painful, tender, firm and mobile supra pubic swelling. On urogenital examination he had a well-developed penis with no urethral meatus, the scrotum divides into two parts forming labia majora-like structure with an opening in between. The testicles were not palpable. Imaging investigations reveal the cystic pelvic mass and bilateral testes were not visualized. On laparotomy, a distended uterus with bilateral fallopian tubes was found.  The uterus consisted foul smelling pus and the testicles were found. Drainage of pus and then a hysterectomy was done. The patient did well and was discharged home. Globally a few cases of Persistent Müllerian duct syndrome were reported but with a variation of manifestation. Persistent Müllerian duct syndrome is a rare condition.