WNT4 Deficiency is a rare genetic condition that affects the development of reproductive organs in individuals assigned female at birth. It is caused by mutations in the WNT4 gene, which plays a crucial role in the formation of the ovaries and uterus during fetal development.
Individuals with WNT4 Deficiency may have underdeveloped or absent ovaries and may not undergo puberty naturally. They may also have abnormalities in the structure of the uterus and fallopian tubes. These reproductive organ malformations can lead to infertility and difficulties in conceiving.
Aside from reproductive issues, WNT4 Deficiency can also cause other physical abnormalities, such as skeletal and renal anomalies. The severity of symptoms can vary widely among affected individuals.
Diagnosis of WNT4 Deficiency is typically made through genetic testing, which can identify mutations in the WNT4 gene. Treatment options are limited and mainly focus on managing the associated symptoms and providing support for infertility.
It is important for individuals with WNT4 Deficiency to receive comprehensive medical care and genetic counseling to understand the implications of the condition and explore available options for family planning.