Each column keeps its native condition scope. Initial features are displayed alphabetically, not ranked by clinical importance. Counts remain separate, and an empty cell does not mean a feature cannot occur.
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Ancestor membership does not transfer phenotype values between groups.","importantHtml":""},"sections":[{"bodyHtml":"In many individuals with Swyer syndrome, the cause is unknown. However, variants (also known as mutations) in one of several genes have been found to cause the condition in some affected individuals.
Variants in the SRY gene have been found in approximately 15 percent of individuals with Swyer syndrome. The SRY gene, located on the Y chromosome, provides instructions for making a protein called sex-determining region Y. This protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The sex-determining region Y protein starts processes that are involved in male-typical sex development. These processes cause a fetus to develop male gonads (testes) and genitals and prevent the development of female internal reproductive structures (uterus, fallopian tubes, and upper part of the vagina) and genitals. SRY gene variants that cause Swyer syndrome prevent production of the sex-determining region Y protein or result in the production of a nonfunctioning protein. Without functional sex-determining region Y protein, a fetus will not develop testes but will develop female-typical internal and external reproductive structures, despite having an X and a Y chromosome.
Swyer syndrome can also be caused by variants in the MAP3K1 gene; research indicates that variants in this gene may account for up to 18 percent of cases. The MAP3K1 gene provides instructions for making a protein that helps control various processes in the body, including processes of determining sex characteristics before birth. The variants in the MAP3K1 gene that cause Swyer syndrome decrease signaling that leads to male-typical sex development and increase signaling that leads to female-typical sex development. These changes in signaling prevent the development of testes and allow the development of female reproductive structures.
Variants in the DHH and NR5A1 genes have also been identified in a small percentage of people with Swyer syndrome. The DHH gene provides instructions for making a protein that is important for early development of tissues in many parts of the body. The NR5A1 gene provides instructions for producing a protein called steroidogenic factor 1 (SF1). This protein helps control the activity of several genes related to sex development and the production of sex hormones. Variants in the DHH and NR5A1 genes disrupt the process of sex development, preventing affected individuals with a 46,XY karyotype from developing testes and causing them to develop female reproductive structures.
Changes affecting other genes have also been identified in a few people with Swyer syndrome. Nongenetic factors, such as hormonal medications taken by the mother during pregnancy, have very rarely been associated with this condition.
","key":"forms","title":"What causes Swyer syndrome?"},{"bodyHtml":"Chromosomes contain the genetic instructions for how the body develops and functions. People usually have 46 chromosomes in each cell. Two of the 46 chromosomes, known as X and Y, are called sex chromosomes because they help determine whether a person will develop male or female reproductive structures. Girls and women typically have two X chromosomes (46,XX karyotype), while boys and men typically have one X chromosome and one Y chromosome (46,XY karyotype). In Swyer syndrome, individuals have one X chromosome and one Y chromosome in each cell, which is the pattern typically found in boys and men; however, they have female reproductive structures.
People with Swyer syndrome have female external genitalia and some female internal reproductive structures. These individuals usually have a uterus and fallopian tubes, but their gonads (ovaries or testes) are not functional. Instead, the gonads are small and underdeveloped and contain little gonadal tissue. These structures are called streak gonads. The streak gonadal tissue is at risk of developing cancer that is often hard-to-detect, so it is usually removed surgically. Swyer syndrome is also called 46,XY complete gonadal dysgenesis; the medical term “dysgenesis” means "abnormal development."
Swyer syndrome may be identified before birth, at birth, or later when a child does not go through puberty as usual. Because they do not have functional ovaries that produce hormones, affected individuals often begin hormone replacement therapy during early adolescence to start puberty, causing the breasts and uterus to grow, and eventually leading to menstruation. Hormone replacement therapy is also important for bone health and helps reduce the risk of low bone density (osteopenia) and fragile bones (osteoporosis). Women with Swyer syndrome do not produce eggs (ova), but if they have a uterus, they may be able to become pregnant with a donated egg or embryo.
Source: MedlinePlus Genetics
","key":"overview","title":"Condition overview"}],"sharedSources":[],"slug":"swyer-syndrome","sourceDocuments":[{"name":"Swyer syndrome","reviewed":"2015-03","sections":{"causes":{"fetchedAt":"2026-10-20T20:25:22.327883+00:00","label":"Causes","pageSha256":"a1d6e63641f2f910e93e4ea1518a1d51d71202ac49cc9e6712e57bd94a0ebf90","sourceUrl":"https://medlineplus.gov/genetics/condition/swyer-syndrome/#causes","status":"available"}},"source_release":"2026-10-01","url":"https://medlineplus.gov/genetics/condition/swyer-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":"Swyer syndrome"},"schemaVersion":1}