WNT4 Deficiency is an intersex condition that effects CTF individuals. Those with this condition usually also have Müllerian Agenesis, however this condition is rarer than Müllerian Agenesis, meaning those with Müllerian Agenesis usually do not have this condition.
Those with this condition have an underdeveloped or absent vagina, ambiguous genitals, an underdeveloped or absent uterus, and hyperandrogenism. Because of this, they develop acne, amenorrhea, and extra body hair.
They may experience pain during sexual intercourse, urinary tract infections, and/or kidney stones however this is not always the case.
Causes
WNT4 Deficiency is caused by mutations in the WNT4 gene. This genetic mutation can occur randomly as a spontaneous event (i.e., new mutation) or it can be inherited from parents. This is due to an abnormal gene that one or both parents could have within their system. If both parents have it, the condition will be more severe when passed down to the child.
Resources
- https://rarediseases.org/rare-diseases/wnt4-deficiency/#:~:text=WNT4%20deficiency%20is%20a%20rare,which%20are%20male%20sex%20hormones.
- https://en.wikipedia.org/wiki/WNT4_deficiency