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WNT4 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

WNT4 gene

The WNT4 gene is essential for the development of the female reproductive system, kidneys, and hormone-producing glands.

Normal Function

The WNT4 gene belongs to a family of WNT genes that play critical roles in development before birth. These genes provide instructions for making proteins that participate in chemical signaling pathways in the body, which control the activity of certain genes and regulate the interactions between cells during embryonic development.

The WNT4 gene provides instructions for producing a protein that is important for the formation of the female reproductive system, the kidneys, and several hormone-producing glands. During the development of the female reproductive system, the WNT4 protein regulates the formation 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. This protein is also involved in the development of the ovaries and the regulation of male sex hormone (androgen) production.

Health Conditions Related to Genetic Changes

Müllerian aplasia and hyperandrogenism

At least three mutations in the WNT4 gene have been found to cause Müllerian aplasia and hyperandrogenism. Girls and women with this condition typically have an underdeveloped or absent uterus, do not menstruate, and may have abnormally high levels of androgens, which can cause acne and excessive facial hair.

Researchers suspect that the altered protein cannot be released from cells as it normally would be, rendering it unable to perform its usual functions. This loss of regulation disrupts the development of the female reproductive system and induces abnormal production of androgens.

Other disorders

  • SERKAL syndrome: A severe, likely fatal condition caused by a loss-of-function mutation in both copies of the WNT4 gene, leading to abnormal development of the kidneys, adrenals, and lungs, and sex reversal.
  • Chromosome 1 duplication: An extra copy of the WNT4 gene can lead to the production of extra WNT4 protein, which may cause individuals with a male chromosome pattern to develop some female features, such as an underdeveloped uterus and nonfunctional testes.

Other Names for This Gene

  • wingless-type MMTV integration site family member 4
  • wingless-type MMTV integration site family, member 4
  • WNT-4
  • WNT-4 protein
  • WNT4_HUMAN

Frequently Asked Questions

Because the uterus is often absent or underdeveloped, natural conception is unlikely. However, assisted reproductive technologies can be used: a gestational carrier (surrogate) can carry a pregnancy using the woman’s eggs or a donor egg, and the embryo can be implanted into a surrogate’s uterus. In some cases, a uterus transplant may be considered, though it remains experimental and is available only in specialized centers.
Girls with a WNT4 mutation often do not develop a uterus, so they may never menstruate and may have a short or absent vagina. They may also present with acne, hirsutism, or other signs of excess androgens such as deepening voice or increased muscle mass. If a newborn appears to have a normal external genitalia but later fails to start menses, a WNT4 evaluation is warranted.
Diagnosis begins with a pelvic ultrasound or MRI to assess the presence of a uterus and fallopian tubes. Hormonal panels measuring estradiol, progesterone, LH, FSH, and testosterone help identify hyperandrogenism. Genetic testing via targeted sequencing of the WNT4 gene confirms pathogenic variants.
Therapies focus on reducing androgen levels and managing symptoms. Oral contraceptive pills that contain estrogen and progesterone can suppress ovarian androgen production. Anti-androgen medications such as spironolactone or finasteride may be added to control acne and hirsutism. Lifestyle measures—weight management, diet, and exercise—also help lower androgen levels.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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