Print Overview Turner syndrome, a condition that affects only females, results when one of the X chromosomes sex chromosomes is missing or partially missing.
General Discussion Summary Turner syndrome is a rare chromosomal disorder that affects females. The disorder is characterized by partial or complete loss monosomy of one of the X chromosomes. Turner syndrome is highly variable and can differ dramatically from one person to another.
Affected females can potentially develop a wide variety of symptoms, affecting many different organ systems. Common symptoms include short stature and premature ovarian failure, which can result in the failure to attain puberty.
Most women with Turner syndrome are infertile. A variety of additional symptoms can occur including abnormalities of the eyes and ears, skeletal malformations, heart anomalies, and kidney abnormalities.
Intelligence is usually normal, but affected individuals may experience certain learning disabilities.
Turner syndrome may be diagnosed before birth or shortly after birth or during early childhood. However, in some cases, the disorder may not be diagnosed until well into adulthood, often as an incidental finding. The exact, underlying cause of Turner syndrome is not known.
Furthermore, most cases do not run in families and appear to occur randomly for no apparent reason sporadically. Introduction Turner syndrome is named for Henry Turner who, inwas one of the first doctors to report on the disorder in the medical literature. Turner syndrome is one of the most common chromosomal disorders and likely the most common genetic disorder of females.
Many features of the disorder are nonspecific and others may develop slowly over time or can be subtle. It is important to note that affected individuals may not have all of the symptoms discussed below. Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.
Almost all females with Turner syndrome exhibit growth failure and attain a final height that is shorter than average short stature. Children may initially display normal growth, usually for the first few years of life.
However, in most cases, the growth rate eventually becomes slower than normal and affected children do not experience normal growth spurts e. If untreated, the final height in Turner syndrome is often less than 5 feet. Another common feature of Turner syndrome is the failure of the ovaries to develop properly gonadal dysgenesis.
Gonadal dysgenesis can cause the loss of ovarian function early during childhood premature ovarian failure.
|Prognosis for Turner Syndrome||Visual impairments — scleracorneaglaucomaetc. Ear infections and hearing loss High waist-to-hip ratio the hips are not much bigger than the waist Attention deficit hyperactivity disorder problems with concentration, memory, attention with hyperactivity seen mostly in childhood and adolescence Nonverbal learning disability problems with maths, social skills, and spatial relations Other features may include a small lower jaw micrognathiacubitus valgus soft upturned nails, palmar crease, and drooping eyelids.|
Normally, the ovaries produce sex hormones e. These hormones are necessary for the onset of puberty and the proper development of secondary sexual characteristics. Most affected females will require hormone replacement therapy to develop breasts and normal female body contours, undergo proper bone growth, and to begin menstruation.
In some cases, affected individuals may begin to undergo breast development and may begin menstruating without therapy spontaneous pubertal developmentbut most will stop developing sexually and stop menstruating at some later point during their teen-age years. Intelligence is usually normal in females with Turner syndrome.
However, affected females may develop learning disabilities, especially difficulties with visual-spatial relationships.
An example would be right-left disorientation. Affected individuals may have difficulties with directional sense, learning math, nonverbal memory and attention.For most women with Turner syndrome, inability to conceive a child without fertility treatment When to see a doctor Sometimes it's difficult to distinguish the signs and symptoms .
Treatment for Turner syndrome includes growth hormone injections and estrogen replacement therapy. Additional symptoms of Turner syndrome include the following: An especially wide neck (webbed neck) and a low or indistinct hairline.
A broad chest and widely spaced nipples. Compartment Syndrome Symptoms Acute compartment syndrome usually develops over a few hours after a serious injury to an arm or leg. Some symptoms of acute compartment syndrome include. Turner syndrome is a chromosomal condition that alters development in females.
Women with this condition tend to be shorter than average and are usually unable to conceive a child (infertile) because of an absence of ovarian function. Other features of this condition that can vary among women who. Although there is no cure for Turner syndrome, some treatments can help minimize its symptoms.
These include 1. Human growth hormone. If given in early childhood, hormone injections can often increase adult height by a few inches. Symptoms of the following disorders can be similar to those of Turner syndrome. Comparisons may be useful for a differential diagnosis.
Noonan syndrome is a common genetic disorder that is typically evident at birth (congenital).