Mayer-Rokitansky-Kuster-Hauser syndrome: recent clinical and genetic findings

Abstract

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, Cftr and Hox genes, have been unproductive. Only the Wnt4 gene has been clearly implicated in MRKH syndrome and found to be associated with clinical and/or biological signs of hyperandrogenism in three different works. Beside the multiple malformations that may be associated with MRKH syndrome, such as renal, skeletal, cardiac and auditory defects, MRKH and hyperandrogenism represent a new clinical and genetic disorder.