THE PERSISTENT MULLERIAN DUCT SYNDROME - A RARE CAUSE OF CRYPTORCHIDISM

The persistent Mullerian duct syndrome is characterized by the retenti on of Mullerian derivatives in patients otherwise normally virilized. Clinically, the persistence of uterus and tubes leads either to crypto rchidism or inguinal hernia, depending on whether or not the Mullerian derivatives can be mobilized during testicular descent. The condition is usually discovered at surgery, however preoperative sonography cou ld allow the diagnosis to be made preoperatively. The molecular basis of the persistent Mullerian duct syndrome is heterogeneous, and is ref lected by wide variations in the serum concentration of anti-Mullerian hormone. Some cases are apparently due to end-organ resistance, and a re associated with normal serum levels of the hormone. Others, charact erized by absent or low hormone concentrations, can be explained by mu tations of the gene coding for anti-Mullerian hormone, which are distr ibuted along the whole length of the coding region.