The Persistent M üllerian Duct Syndrome: An Update Based Upon a Personal Experience of 157 Cases

Male sex differentiation is driven by 2 hormones, testosterone and anti-m üllerian hormone (AMH), responsible for the regression of müllerian ducts in male fetuses. Mutations inactivatingAMH or its receptorAMHRII lead to the persistent m üllerian duct syndrome (PMDS) in otherwise normally virilized 46,XY males. Our objective was to review the clinical, anatomical, and molecular features of PMDS based upon a review of the literature and upon 157 personal cases. Three clinical presentations exist: bilateral cryptorchidism, unilateral cryptorchidism with contralateral hernia, and transverse testicular ectopia. Abnormalities of male excretory ducts are frequent. Testicular malignant degeneration occurs in 33% of adults with the disorder, while cancer of müllerian derivatives is less frequent. Fertility is rare but possible if at least one testis is scrotal and its excretory ducts are intact. Eighty families with 64 different mutations of theAMH gene have been identified, mostly in exons 1, 2, and 5.AMHRII gene mutations representing 58 different alleles have been discovered in 75 families. The most common mutation, a 27-bp deletion in the kinase domain, was found in 30 patients of mostly Northern European origin. In 12% of cases, no mutation ofAMH orAMHRII has been detected, suggesting a disruption of other pathways involved in m üllerian regression.Sex Dev
Source: Sexual Development - Category: Biology Source Type: research