title: Testicular degeneration in three patients with the persistent müllerian duct syndrome.
abstract: The persistent müllerian 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-müllerian hormone, a Sertoli cell glycoprotein responsible for the regression of müllerian derivatives in normal male fetuses. Patients are normally virilized and testicular production of testosterone is normal. Both testes may be cryptorchid; alternatively, one may be descended into the inguinal canal or scrotum, together with the müllerian derivatives, a condition known as "hernia uteri inguinalis". We have recently observed three patients affected by the persistent müllerian duct syndrome who experienced progressive degeneration of testicular tissue. In two, functional testicular tissue was still present some months after birth, but deteriorated progressively later. In one patient, testicular tissue was already absent at birth, but the normal virilization of external genitalia indicated that testicular degeneration must have occurred late during fetal life, after the expected time of regression of male müllerian ducts.
  
  
  CONCLUSIONS
  The high incidence of degeneration of testicular tissue in the persistent müllerian duct syndrome could be indirectly linked to anatomical abnormalities which could favour testicular torsion, known to induce testicular regression.
authors.affiliation: Unité de Recherches sur l'Endocrinologie du Développement (INSERM), Ecole Normale Supérieure, Montrouge, France.
authors.forename: S
authors.initials: S
authors.lastname: Imbeaud
authors.forename: R
authors.initials: R
authors.lastname: Rey
authors.forename: P
authors.initials: P
authors.lastname: Berta
authors.forename: J L
authors.initials: JL
authors.lastname: Chaussain
authors.forename: J M
authors.initials: JM
authors.lastname: Wit
authors.forename: R H
authors.initials: RH
authors.lastname: Lustig
authors.forename: M A
authors.initials: MA
authors.lastname: De Vroede
authors.forename: J Y
authors.initials: JY
authors.lastname: Picard
authors.forename: N
authors.initials: N
authors.lastname: Josso
mesh_terms: D002908:Chronic Disease; D003456:Cryptorchidism / Q000000981:diagnostic imaging / Q000473:pathology / Q000601:surgery; D012734:Disorders of Sex Development / Q000473:pathology* / Q000601:surgery; D006062:Gonadotropins / Q000378:metabolism; D006131:Growth Inhibitors; D006552:Hernia, Inguinal / Q000150:complications / Q000601:surgery; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009095:Mullerian Ducts / Q000473:pathology*; D013086:Spermatic Cord Torsion / Q000150:complications / Q000601:surgery; D013577:Syndrome; D013733:Testicular Diseases / Q000378:metabolism / Q000473:pathology*; D013735:Testicular Hormones / Q000378:metabolism; D013737:Testis / Q000378:metabolism / Q000473:pathology; D014463:Ultrasonography
chemical_list: D006062:Gonadotropins; D006131:Growth Inhibitors; D013735:Testicular Hormones