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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"<p>Turner syndrome is related to the X chromosome, which is one of the two sex chromosomes. People typically have two sex chromosomes in each cell: generally, females have two X chromosomes, while males have one X chromosome and one Y chromosome. Turner syndrome results when one normal X chromosome is present in cells and the other sex chromosome is missing or structurally altered. The missing genetic material affects development before and after birth.</p><p>About half of individuals with Turner syndrome have monosomy X, which means each cell in the individual&#x27;s body has only one copy of the X chromosome instead of the usual two.</p><p>Turner syndrome can also occur if one of the X chromosomes is partially missing or rearranged rather than completely absent.</p><p>Some people with Turner syndrome have a chromosomal change in only some of their cells, which is known as mosaicism. People with Turner syndrome caused by X chromosome mosaicism are said to have mosaic Turner syndrome.</p><p>Researchers have not determined which genes on the X chromosome are associated with most of the features of Turner syndrome. They have, however, found that the loss of one copy of a gene called SHOX likely causes short stature and skeletal abnormalities in people with Turner syndrome.</p><p class=\"section-source\"><a href=\"https://medlineplus.gov/genetics/condition/turner-syndrome/#causes\">MedlinePlus Genetics: Causes</a></p>","key":"forms","title":"What causes Turner syndrome?"},{"bodyHtml":"<p>The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. Reduced functioning of the ovaries, the female reproductive organs that produce egg cells (oocytes) and female sex hormones, is also very common. The ovaries develop normally at first, but egg cells usually die prematurely and most ovarian tissue breaks down before birth.</p><p>Many females with Turner syndrome do not undergo puberty unless they receive hormone therapy, and most are unable to become pregnant naturally. A small percentage of people with Turner syndrome retain normal ovarian function through young adulthood.</p><p>About 30 percent of individuals with Turner syndrome have extra folds of skin on the neck (webbed neck), a low hairline at the back of the neck, puffiness or swelling (lymphedema) of the hands and feet, skeletal abnormalities, or kidney problems. One-third to one-half of individuals with Turner syndrome are born with a heart defect, such as a narrowing of the large artery that leaves the heart (coarctation of the aorta) or abnormalities of the valve that connects the aorta to the heart (the aortic valve). Complications associated with these heart defects can be life-threatening.</p><p>Most people with Turner syndrome have normal intelligence. Developmental delays, nonverbal learning disabilities, and behavioral problems are possible, although these characteristics vary among affected individuals.</p><p class=\"section-source\">Source: <a href=\"https://medlineplus.gov/genetics/condition/turner-syndrome\">MedlinePlus Genetics</a></p>","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"turner-syndrome","sourceDocuments":[{"name":"Turner syndrome","reviewed":"2023-04","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:36.583664+00:00","label":"Causes","pageSha256":"12c2dfdc50f58220bd49dc1dac1da72001e5822d884bfc7dc78dafa89e903bae","sourceUrl":"https://medlineplus.gov/genetics/condition/turner-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/turner-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":"Turner syndrome"},"schemaVersion":1}