WNT4 and hyperandrogenism: The first mutation found and proved causative of MRKHS concomitant with hyperandrogenism without clinical signs of virilization (OMIM 158330) was the Q226G missense mutation of the WNT4 protein, due to a heterozygous substitution of guanine for adenine in exon 5 of the WNT4 gene [26].