Short answer · Medically reviewed summary · Last updated: 2023-07-13
WNT4 Deficiency is a rare genetic disorder that affects the development of the reproductive system in individuals assigned female at birth. It is characterized by the absence or underdevelopment of the uterus, fallopian tubes, and upper part of the vagina, while the external genitalia appear normal.
What is the prevalence of WNT4 Deficiency?
Prevalence of WNT4 Deficiency: how many people are affected worldwide, differences by sex and region, with sources.
WNT4 Deficiency is a rare genetic disorder that affects the development of the reproductive system in individuals assigned female at birth. It is characterized by the absence or underdevelopment of the uterus, fallopian tubes, and upper part of the vagina, while the external genitalia appear normal. This condition is also known as Müllerian aplasia or Mayer-Rokitansky-Küster-Hauser syndrome (MRKH).
Due to its rarity, the prevalence of WNT4 Deficiency is not well-established. However, studies suggest that it affects approximately 1 in 4,500 to 1 in 5,000 individuals assigned female at birth. It is important to note that the prevalence may vary among different populations and ethnicities.
Diagnosis of WNT4 Deficiency typically occurs during adolescence when individuals do not start menstruating. It can have significant psychological and emotional impacts on affected individuals, as it may affect their fertility and sexual development. However, with appropriate medical care and support, individuals with WNT4 Deficiency can lead fulfilling lives.
