WNT4 has been clearly implicated in the atypical version of Mayer-Rokitansky-Kuster-Hauser Syndromefound in XX humans. A genetic mutation causes a leucine to proline residue substitution at amino acid position 12.  This occurrence reduces the intranuclear levels of β-catenin. In addition, it removes the inhibition of steroidogenic enzymes like 3β-hydroxysteriod dehydrogenase and 17α-hydroxylase. Patients usually have uterine hypoplasia , which is associated with biological symptoms of androgen excess. Furthermore, Müllerian abnormalities are often found.