[Persistent müllerian duct syndrome (males with uterus): a pediatric problem]

The persistent müllerian duct syndrome (PMDS) is characterized by the persistence of the uterus and Fallopian tubes in otherwise normally virilized boys. Its diagnosis is usually made during a surgical procedure for inguinal hernia or cryptorchidism. We report six recent cases of PMDS, in which we have studied anti-Müllerian hormone (AMH) serum levels.

Six boys including three brothers were operated on for cryptorchidism or inguinal hernia. Surgical exploration showed persistence of the uterus and Fallopian tubes in patients having normal 46, XY karyotype and male gonads. The AMH serum levels were measured by Elisa and the AMH gene by single strand conformation polymorphism of PCR products.

The three brothers showed a mutation in the AMH gene which leads to the replacement of leucine by proline at position 70 and to a defect in AMH production. In two other patients, serum AMH values were normal, no mutation on the AMH gene was found, and end-organ insensitivity was suggested to explain the persistence of müllerian derivatives. In the last patient, although AMH serum levels were very low due to a progressive degeneration of testicular tissue, molecular analysis of the AMH gene suggested that end-organ resistance might be the cause of the persistence of müllerian ducts.

PMDS is not extremely rare. Many diagnostic mistakes are made which could be prevented by performing pelvic or inguinal ultrasonography before surgical treatment of bilateral cryptorchidism or irreducible inguinal hernia. Prognosis depends upon the integrity of the testicular tissue, sometimes compromised for yet unexplained reasons, and upon the successful correction of cryptorchidism, which is complicated by the close anatomical relationship between the vasa deferentia and the Müllerian derivatives.