For instance, some patients with MRKH associated with hyperandrogenism bear mutations in WNT4 (Biason-Lauber et al., 2004, 2007; Philibert et al., 2008, 2011), although mutational analysis of MRKH women without hyperandrogenism did not identify disruptions in this gene (Ravel et al., 2009; Chang et al., 2012). This evidence concerns the gene WNT4 and hyperandrogenism.