What is WNT4 Müllerian aplasia and ovarian dysfunction?
WNT4 Müllerian aplasia and ovarian dysfunction is a disorder that occurs in females and affects the reproductive system. This condition is caused by abnormal development of the Müllerian duct, a structure present in the embryo that develops into the uterus, fallopian tubes, cervix, and the upper part of the vagina. Individuals with WNT4 Müllerian aplasia and ovarian dysfunction typically have an underdeveloped or absent uterus and may also have abnormalities of other reproductive organs. Women with this condition have normal female genitalia and normal breast and public hair development, but they do not begin menstruation by age 16 (primary amenorrhea). It is unknown if women with this disorder will ever menstruate. Women with WNT4 Müllerian aplasia and ovarian dysfunction have higher than normal levels of male sex hormones (androgens) in their blood. These high levels of androgens cause acne and excessive facial hair (facial hirsutism). Kidney abnormalities may be present in some affe
