These symptoms may occur due to lymphedema, a condition affecting the lymphatic system. A broad chest with widely spaced nipples may occur, which is sometimes referred to as “shield chest.” Some individuals may have swollen, puffy hands and feet. Affected females may also experience difficulty in certain social situations.įemales with Turner syndrome may develop a variety of distinctive physical features including a short neck with a webbed appearance, a low hairline at the back of the head, low-set ears, and narrow fingernails and toenails that are turned upward. Affected individuals may have difficulties with directional sense, learning math, nonverbal memory and attention. An example would be right-left disorientation. However, affected females may develop learning disabilities, especially difficulties with visual-spatial relationships. Intelligence is usually normal in females with Turner syndrome. In some cases, affected individuals may begin to undergo breast development and may begin menstruating without therapy (spontaneous pubertal development), but most will stop developing sexually and stop menstruating at some later point during their teen-age years. Most affected females will require hormone replacement therapy to develop breasts and normal female body contours, undergo proper bone growth, and to begin menstruation. These hormones are necessary for the onset of puberty and the proper development of secondary sexual characteristics. Normally, the ovaries produce sex hormones (e.g. Gonadal dysgenesis can cause the loss of ovarian function early during childhood (premature ovarian failure). If untreated, the final height in Turner syndrome is usually less than 5 feet.Īnother common feature of Turner syndrome is the failure of the ovaries to develop properly (gonadal dysgenesis). However, in most cases, the growth rate eventually becomes slower than normal and affected children do not experience normal growth spurts (e.g., no growth spurt during puberty). Children may initially display normal growth, usually for the first few years of life. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.Īlmost all females with Turner syndrome exhibit growth failure and attain a final height that is shorter than average (short stature). It is important to note that affected individuals may not have all of the symptoms discussed below. Many features of the disorder are nonspecific and others may develop slowly over time or can be subtle. The symptoms and severity of Turner syndrome can be quite variable from one person to another. Turner syndrome is one of the most common chromosomal disorders and likely the most common genetic disorder of females. Turner syndrome is named for Henry Turner who, in 1938, was one of the first doctors to report on the disorder in the medical literature. Most cases do not run in families and appear to occur randomly for no apparent reason (sporadically). However, in some cases, the disorder may not be diagnosed until well into adulthood, often as an incidental finding. Turner syndrome may be diagnosed before birth or shortly after birth or during early childhood. Intelligence is usually normal, but affected individuals may experience certain learning disabilities. A variety of additional symptoms can occur including abnormalities of the eyes and ears, skeletal malformations, heart anomalies, and kidney abnormalities. Most women with Turner syndrome are infertile. Common symptoms include short stature and premature ovarian failure, which can result in the failure to attain puberty. Affected females can potentially develop a wide variety of symptoms, affecting many different organ systems. Turner syndrome is highly variable and can differ dramatically from one person to another. The disorder is characterized by partial or complete loss (monosomy) of one of the second sex chromosomes. Turner syndrome is a rare chromosomal disorder that affects females. 5 Myths About Orphan Drugs and the Orphan Drug Act.Information on Clinical Trials and Research Studies.
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