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Persistent müllerian 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 frequently caused either by the genetic defect of the anti-müllerian hormone (AMH) or its receptor AMH receptor type 2 (AMHR2) gene. AMHR2 mutations have been reported in 45% of genetically proven cases with PMDS. The most common referral findings are bilateral cryptorchidism or transverse testicular ectopia. The presence of uterus and tubes is usually detected during surgery for cryptorchidism. Herein we have presented a PMDS patient with previously reported homozygous AMHR2 mutation, in whom müllerian structures (uterus and fallopian tubes) were detected during laparoscopic intervention performed with the indication of bilateral undescended testis.

A Rare Cause of a 46,XY Disorders of Sex Development: Persistent Mullerian Duct Syndrome