TESTICULAR DEGENERATION IN 3 PATIENTS WITH THE PERSISTENT MULLERIAN-DUCT-SYNDROME

The persistent Mullerian duct syndrome, characterized by the presence of uterus and tubes in males: is a familial disorder due to defects of synthesis or action of anti-Mullerian hormone, a Sertoli cell glycopr otein responsible for the regression of Mullerian derivatives in norma l male fetuses. Patients are normally virilized and testicular product ion of testosterone is normal. Both testes may be cryptorchid; alterna tively, one may be descended into the inguinal canal or scrotum, toget her with the Mullerian derivatives, a condition known as ''hernia uter i inguinalis''. We have recently observed three patients affected by t he persistent Mullerian duct syndrome who experienced progressive dege neration of testicular tissue. In two, functional testicular tissue wa s still present some months after birth, but deteriorated progressivel y later. In one patient, testicular tissue was already absent at birth , but the normal virilization of external genitalia indicated that tes ticular degeneration must have occurred late during fetal life, after the expected time of regression of male Mullerian ducts. Conclusion Th e high incidence of degeneration of testicular tissue in the persisten t Mullerian duct syndrome could be indirectly linked to anatomical abn ormalities which could favour testicular torsion, known to induce test icular regression.