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The Persistent Mullerian Duct Syndrome: A Molecular Approach^*

Unité de Recherches sur l’Endocrinologie du Développement, INSERM Hôpital des Enfants-Malades (D.G., D.T., L.L., J.Y.P., N.J.), and Unité de Recherches en Génétique et Pathologie Moléculaires, INSERM (A.K.) Paris
Hôpital de Hautepierre (S.H., M.B.) Strasbourg, France
Hôpital Universitaire des Enfants Reine Fabiola (J.M.V., G. V. V., M.H.D.L.), Brussels, and Kliniek Helilige Familie (L.V.O.) Ghent, Belgium

Address requests for reprints to: Dr. Nathalie Josso, Unité de Recherches 293, INSERM Hôpital des Enfants-Malades, Paris Cedex 15, 75743 France.

A rare form of male pseudohermaphroditism is characterized by the persistence of Müllerian derivatives in phenotypic males. To determine the etiology of this syndrome, we studied the expression of anti-Müllerian hormone (AMH) in six boys, including three brothers, with the persistent Miillerian duct syndrome. All except one presented with an inguinal hernia containing the Müllerian derivatives, and in two boys the hernial sac contained the controlateral testis. AMH was normally expressed in the testicular tissue of two patients, as shown bybioassay of anti-Müllerian activity and immunocytochemistry. The testicular tissue of the other patients had no detectable bioactive or immunoreactive AMH, yet they expressed AMH mRNA with a normal transcription initiation site and in the amount expected for their age. These results prove the heterogeneity of the persistent Müllerian duct syndrome and suggest that it may sometimes involve peripheral insensitivity to AMH.

^* This work was supported by the Necker Enfants-Malades School of Medicine (Université René-Descartes).

Received May 6, 1988.

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