Turner's syndrome is a random genetic disorder that affects females. The main characteristics include
On average, the life expectancy of people with TS is about 13 years shorter than that of the general population. Heart disease and type 2 diabetes may reduce life expectancy, though optimal medical care can reduce the impact of those diseases.
Most girls with Turner syndrome do not produce enough of these sex hormones, which means: they may not begin sexual development or fully develop breasts without female hormone replacement therapy (HRT) they may begin sexual development but not complete it. they may not start their monthly periods naturally.
Although there is no cure for Turner syndrome, some treatments can help minimize its symptoms. These include1: Human growth hormone. If given in early childhood, hormone injections can often increase adult height by a few inches.
Turner syndrome occurs when part or all of an X chromosome is missing from most or all of the cells in a girl's body. A girl normally receives one X chromosome from each parent. The error that leads to the missing chromosome appears to happen during the formation of the egg or sperm.
The majority of girls will need estrogen replacement from the age of puberty until the normal age of menopause. For women with Turner syndrome, getting pregnant without reproductive therapy is rare (less than 1%,) but in some cases, pregnancy can be achieved through donor egg and in-vitro fertilization.
Girls and women with Turner syndrome will need to have their heart, kidneys and reproductive system checked regularly throughout their lives. However, it's usually possible to lead a relatively normal and healthy life.
Nearly two-thirds of people with Turner syndrome have autism traits, and almost one-quarter meet the diagnostic criteria for autism, a new study suggests.
Puberty may be absent or not complete. If puberty occurs, it most often begins at the normal age. After the age of puberty, unless treated with female hormones, these findings may be present: Pubic hair is often present and normal.
Turner syndrome can affect: Appearance. Features of Turner syndrome may include a short neck with a webbed appearance, low hairline at the back of the neck, low-set ears, hands and feet that are swollen or puffy at birth, and soft nails that turn upward. Stature.
Most girls with Turner syndrome are shorter than their peers, with an average final adult height of 4 feet 7 inches, and may have other related physical features. These can include: "webbing" of the skin of the neck (extra folds of skin extending from the tops of the shoulders to the sides of the neck)
Inheritance. Most cases of Turner syndrome are not inherited. When this condition is caused by monosomy X , the chromosomal abnormality occurs as a random event during the formation of reproductive cells (eggs and sperm) in the affected person's parent.
The type of Turner syndrome (TS) a person has depends on the problem with the X chromosome: Monosomy X: Each cell has only one X chromosome instead of two. About 45% of people with TS have this type. It comes from the mother's egg or the father's sperm randomly forming without an X chromosome.
Individuals with TS are at higher risk of being diagnosed with depression, anxiety disorders, mood disorders, autism spectrum disorders, attention deficit hyperactivity disorder, schizophrenia, and psychotic disorders [7]. Social difficulties appear to be an area of vulnerability for young women.
These include selective impairments in nonverbal skills, slowed response times, increased rates of attention deficit disorder, increased risk for social anxiety, immaturity, depression, and anxiety. Shyness, social anxiety, and reduced self-esteem generally relate to the premature ovarian failure and fertility issues.
Learning challenges with Turner syndrome
Many people with TS are just as smart as others, but might learn differently. Some learning challenges that come with TS include: Difficulty concentrating, especially on tasks that require paying attention for a long time. Nonverbal abilities, such as making eye contact.
Turner syndrome has also been shown to have a typical neurocognitive profile characterized by average to low-average full-scale intelligence quotient (IQ) scores with a significant disjunction between verbal and performance IQ, as well as the frequent occurrence of atypical social traits.
Turner syndrome affects approximately 1 in 2,000-2,500 live female births. It is estimated that more than 70,000 females in the United States have Turner syndrome. There are no known racial or ethnic factors that influence frequency of the disorder.
Turner's syndrome women are described as hyperfeminine without problems in gender identity, gender role, or arousal pattern.
Cardiovascular diseases are a major cause of death in Turner syndrome.
Turner syndrome is usually identified during childhood or at puberty. However, it can sometimes be diagnosed before a baby is born using a test called amniocentesis.
Turner syndrome is not usually inherited in families. Turner syndrome occurs when one of the two X chromosomes normally found in women is missing or incomplete. Although the exact cause of Turner syndrome is not known, it appears to occur as a result of a random error during the formation of either the eggs or sperm.
Other symptoms of Turner syndrome can include: feeding problems during infancy. puffy hands and feet at birth, as well as a wideness and "webbing" of the neck. a low hairline at the back of the neck.