Authors: Sultan C, Biason-Lauber A, Philibert P Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome is characterized by Mullerian duct aplasia in an XX individual with female phenotype presenting primary amenorrhea at adolescence. Multiple abnormalities may be associated with the MRKH syndrome. Genetic investigations focused on the genes of anti-Mullerian hormone and its receptor, as well as on Wt1, Pax2, [...]