Detailed functional analysis of three WNT4 mutations in 46,XX individuals with Müllerian duct abnormalities and hyperandrogenism suggested that WNT4 is involved in ovarian development through repression of androgen biosynthesis (Biason-Lauber et al., 2007; Philibert et al., 2008, 2011). The gene discussed is WNT4; the disease is hyperandrogenism.