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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>The cause of MRKH syndrome is unknown. Changes in several genes that are involved in development before birth have been identified in girls and women with MRKH syndrome. However, these genetic changes have been found in only a small number of affected people, and it is unclear whether they actually cause MRKH syndrome. Researchers are working to determine how genetic changes could lead to problems with the development of the female reproductive system.</p><p>The features of MRKH syndrome are due to incomplete development of the Müllerian duct. This is a structure in the embryo that develops into the uterus, fallopian tubes, cervix, and the upper part of the vagina. The cause of the incomplete development of the Müllerian duct is unknown. Originally, researchers suspected that MRKH syndrome was caused by environmental factors during pregnancy, such as medication or maternal illness. However, subsequent studies have not identified a clear association between MRKH syndrome and any specific environmental factors. Researchers now suggest that genetic and environmental factors together contribute to the development of MRKH syndrome, although the specific factors are often unknown.</p><p>It is also unclear why some girls and women with MRKH syndrome have abnormalities in parts of the body other than the reproductive system. Certain tissues and organs, such as the kidneys, develop from the same embryonic tissue as the Müllerian duct, and researchers suspect that problems during development could affect these organs as well.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/mayer-rokitansky-kuster-hauser-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Mayer-Rokitansky-Küster-Hauser syndrome?"},{"bodyHtml":"<p>Girls and women with MRKH syndrome have a 46,XX chromosome pattern. They have normal external genitalia and functioning ovaries. They also have normal breast and pubic hair development. Women with this condition cannot carry a pregnancy; some may be unable to have biological children (infertile), while others may be able to have children with medical support.</p><p>MRKH syndrome is often divided into two types. MRKH syndrome type 1 affects only the reproductive organs. MRKH syndrome type 2 also affects other parts of the body. In this form of the condition, the kidneys may be abnormally formed or positioned, or one kidney may fail to develop (unilateral renal agenesis). Additionally, hearing loss, heart defects, or skeletal abnormalities, particularly of the spinal bones (vertebrae), can occur in those with MRKH syndrome type 2.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/mayer-rokitansky-kuster-hauser-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"mayer-rokitansky-kuster-hauser-syndrome","sourceDocuments":[{"name":"Mayer-Rokitansky-Küster-Hauser syndrome","reviewed":"2025-05","sections":{"causes":{"fetchedAt":"2026-10-20T20:23:08.091259+00:00","label":"Causes","pageSha256":"2ee2e186831969807a3e8d97ee2ed4a69f70007b3fed59e787caa2afaa9201fc","sourceUrl":"https://medlineplus.gov/genetics/condition/mayer-rokitansky-kuster-hauser-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/mayer-rokitansky-kuster-hauser-syndrome"}],"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":"Mayer-Rokitansky-Küster-Hauser syndrome"},"schemaVersion":1}