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hyperandrogenism","evidence":"TAS","frequency_raw":"HP:0040282","hpo_id":"HP:0001513","is_excluded":false,"label":"Obesity","onset_id":null,"reference":"ORPHA:247768","source_release":"2026-06-23"},"sourceGroups":["orphanet"]}],"referenceLabels":{},"references":{"causeHtml":"<ul><li><a href=\"https://medlineplus.gov/genetics/condition/mullerian-aplasia-and-hyperandrogenism\">Müllerian aplasia and hyperandrogenism</a></li></ul>","identityNote":"MONDO cross-references identify native condition entries. Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>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. 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. This protein is also involved in development of the ovaries, from before birth through adulthood, and is important for development and maintenance of egg cells (oocytes) in the ovaries. In addition, the WNT4 protein regulates the production of androgens.</p><p>Mutations in the WNT4 gene change single protein building blocks (amino acids) in the WNT4 protein. Researchers suspect that the altered protein cannot be released from cells as it normally would be; the trapped protein is unable to perform its usual functions. Loss of regulation by WNT4 likely disrupts development of the female reproductive system and induces abnormal production of androgens, leading to the features of Müllerian aplasia and hyperandrogenism.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/mullerian-aplasia-and-hyperandrogenism/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Müllerian aplasia and hyperandrogenism?"},{"bodyHtml":"<p>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.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/mullerian-aplasia-and-hyperandrogenism\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"mullerian-aplasia-and-hyperandrogenism","sourceDocuments":[{"name":"Müllerian aplasia and hyperandrogenism","reviewed":"2014-07","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:31.156252+00:00","label":"Causes","pageSha256":"5f96708c0240af38059faf5357c33e39e8ef0efdf3e6a2ca29a28135bb01903a","sourceUrl":"https://medlineplus.gov/genetics/condition/mullerian-aplasia-and-hyperandrogenism/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/mullerian-aplasia-and-hyperandrogenism"}],"sourceNote":"MedlinePlus descriptions and Causes; original HPO annotations.","takeawayHtml":"Cause explanations are from MedlinePlus Genetics. Feature values below retain their original sources and patient groups.","title":"Müllerian aplasia and hyperandrogenism"},"schemaVersion":1}