What is WNT4 Mullerian aplasia?

What is WNT4 Mullerian aplasia?

WNT4 deficiency is characterized by mullerian aplasia, which is the failure of structures derived from the mullerian ducts to develop properly. The mullerian duct is a structure within a growing embryo that ultimately develops into the uterus, fallopian tubes, cervix and the upper portion of the vagina.

What does WNT4 stand for?

WNT4 (Wnt Family Member 4) is a Protein Coding gene. Diseases associated with WNT4 include 46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs and Mullerian Aplasia And Hyperandrogenism.

What chromosome is WNT4 on?

WNT4 is a secreted protein that in humans is encoded by the Wnt4 gene, found on chromosome 1. It promotes female sex development and represses male sex development. Loss of function can have serious consequences, such as female to male sex reversal.

Do males have WNT4 gene?

These results identify WNT4 as a new factor involved in the mammalian testis determination pathway and show that genes can have a specific but distinct role in both male and female gonad development.

Are Mullerian anomalies genetic?

There is not one cause of müllerian anomalies. Some may be hereditary, others may be attributed to a random gene mutation or developmental defect.

What are the Müllerian ducts?

The müllerian ducts are the primordial anlage of the female reproductive tract. They differentiate to form the fallopian tubes, uterus, the uterine cervix, and the superior aspect of the vagina. They range from uterine and vaginal agenesis to duplication of the uterus and vagina to minor uterine cavity abnormalities.

What happens to a woman with Mullerian aplasia?

Women with Müllerian aplasia and hyperandrogenism have higher-than-normal levels of male sex hormones called androgens in their blood (hyperandrogenism), which can cause acne and excessive facial hair (facial hirsutism). Kidney abnormalities may be present in some affected individuals.

What are the mutations in the WNT4 gene?

Mutations in the WNT4 gene cause Müllerian aplasia and hyperandrogenism. This gene belongs to a family of WNT genes that play critical roles in development before birth.

What causes abnormal development of the Mullerian ducts?

This condition is caused by abnormal development of the Müllerian ducts, which are structures in the embryo that develop into the uterus, fallopian tubes, cervix, and the upper part of the vagina.