A WNT4 mutation associated with mullerian-duct regression and virilization in a 46, XX woman

An 18-year-old woman presented with primary amenorrhea and an absence of mullerian-derived structures, unilateral renal agenesis, and clinical signs of androgen excess - a phenotype resembling the Mayer-Rokitansky-Kuster-Hauser syndrome and remarkably similar to that of female Wnt4-knockout mice. The loss-of -function mutation identified in the WNT4 gene appears to cause development abnormalities in human and indicates that WNT4 is a major player in the development and maintenance of the female phenotype in women.