6/15/2023 0 Comments Complete anatomy change genderWithout 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. 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. 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. The sex-determining region Y protein starts processes that are involved in male-typical sex development. This protein attaches (binds) to specific regions of DNA and helps control the activity of particular genes. The SRY gene, located on the Y chromosome, provides instructions for making a protein called sex-determining region Y. Variants in the SRY gene have been found in approximately 15 percent of individuals with Swyer syndrome. However, variants (also known as mutations) in one of several genes have been found to cause the condition in some affected individuals. In many individuals with Swyer syndrome, the cause is unknown. 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. Hormone replacement therapy is also important for bone health and helps reduce the risk of low bone density (osteopenia) and fragile bones ( osteoporosis ). 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. Swyer syndrome may be identified before birth, at birth, or later when a child does not go through puberty as usual. Swyer syndrome is also called 46,XY complete gonadal dysgenesis the medical term “dysgenesis” means "abnormal development."īecause they appear female on the outside, babies with Swyer syndrome are usually raised as girls and develop a female gender identity, which is a person's sense of their gender (girl, boy, a combination, or neither). The streak gonadal tissue is at risk of developing cancer that is often hard-to-detect, so it is usually removed surgically. These structures are called streak gonads. Instead, the gonads are small and underdeveloped and contain little gonadal tissue. These individuals usually have a uterus and fallopian tubes, but their gonads (ovaries or testes) are not functional. People with Swyer syndrome have female external genitalia and some female internal reproductive structures. 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. 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 ). 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. People usually have 46 chromosomes in each cell. Sex development usually follows a particular path based on an individual's chromosomes however, in Swyer syndrome, sex development is not typical for the affected individual's chromosomal pattern.Ĭhromosomes contain the genetic instructions for how the body develops and functions. Swyer syndrome is a condition that affects sex development.
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