WNT4 and Primary amenorrhea: Philibert et al. (2008), analyzing young women with primary amenorrhea and lack of Müllerian ducts, have identified a L12P mutation within exon 1 of WNT4 gene, attesting that WNT4 may be involved in the regulation of the development of Müllerian ducts and in the biosynthesis of the ovarian androgens [30].