Abstract

Persistent mullerian duct syndrome (PMDS) is a relatively rare form of a 46,XY disorders of sex development and clinically characterized by undescended testes and the presence of mullerian duct derivatives such as a uterus and fallopian tubes in males with normal external genitalia. The disease is classically either caused by the genetic defect of the anti-Mullerian hormone (AMH) or its receptor AMH receptor type 2 (AMHR2) genes that play a role in the regression of the mullerian structures. AMHR2 mutations have been reported in 45% of genetically proven cases with PMDS. The most common referral findings were bilateral cryptorchidism or transvers testicular ectopia. The presence of uterus and tubes is usually detected during surgery for cryptorchidism. Herein, we reported a case with PMDS who was found Mullerian structures (uterus and fallopian tubes) during laparoscopic intervention due to bilateral undescended testis and who was identified a previously reported homozygous AMHR2 mutation.