THE PERSISTENT MULLERIAN DUCT SYNDROME - A PEDIATRIC PROBLEM

Background. - The persistent mullerian duct syndrome (PMDS) is charact erized by the persistence of the uterus and Fallopian tubes in otherwi se normally virilized boys. Its diagnosis is usually made during a sur gical procedure for inguinal hernia or cryptorchidism. We report sir r ecent cases of PMDS, in which we have studied anti-Mullerian hormone ( AMH) serum levels. Case reports and methods. - Six boys including thre e brothers were operated on for cryptorchidism or inguinal hernia. Sur gical exploration showed persistence of the uterus and Fallopian tubes in patients having normal 46, XY caryotype and male gonads. The AMH s erum levels were measured by Elisa and the AMH gene by single strand c onformation polymorphism of PCR products. Results. - The three brother s 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. I n two other patients, serum AMH values were normal, no mutation on the AMH gene was found, and end-organ insensitivity was suggested to expl ain the persistence of miillerian derivatives. In the last patient alt hough AMH serum levels were very low due to a progressive degeneration of testicular tissue, molecular analysis of the AMH gene suggested th at end-organ resistance might be the cause of the persistence of mulle rian ducts. Conclusion. - PMDS is not extremely rare. Many diagnostic mistakes are made which could be prevented by performing pelvic or ing uinal ultrasonography before surgical treatment of bilateral cryptorch idism or irreducible inguinal hernia. Prognosis depends upon the integ rity of the testicular tissue, sometimes compromised for yet unexplain ed reasons, and upon the successful correction of cryptorchidism, whic h is complicated by the close anatomical relationship between the vasa deferentia and the Mullerian derivatives.