In fact, it appears that, at least in a subgroup of MRKH patients, the absence of the vagina and uterus and excess androgen levels are the pathognomonic signs of WNT4 defects, causing a clinical entity distinct from the typical MRKH syndrome [11,12]. The gene discussed is WNT4; the disease is Mayer-Rokitansky-Kuster-Hauser syndrome.