What does the Turner Syndrome Foundation do?
Mission: The goal of the Turner Syndrome Foundation (TSF) is to support research initiatives and facilitate education programs that increase professional awareness and enhance medical care of those affected by Turner syndrome.
What is Turner syndrome easy definition?
Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects.
What are the four symptoms of Turner syndrome?
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. Girls with Turner syndrome grow more slowly than other children.
What is the main cause of Turner syndrome?
Turner syndrome is caused by partial or complete loss (monosomy) of the second sex chromosome. Chromosomes are found in the nucleus of all body cells. They carry the genetic characteristics of each individual and they come in pairs.
Can males have Turner syndrome?
Turner syndrome, characterized by the presence of a monosomy X cell line, is a common chromosomal dis- order. Patients with Turner syndrome are usually phenotypically female, and male cases are rarely reported.
How does a person inherit Turner syndrome?
Most cases of Turner syndrome are not inherited. When this condition results from 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.
Is Turner syndrome caused by mother or father?
Most cases of Turner syndrome are not inherited . Most commonly, Turner syndrome occurs due to a random event during the formation of an egg or sperm cell in a parent (prior to conception).
Can a woman with Turner syndrome get pregnant?
It is caused by a random error that leads to a missing X chromosome in the sperm or egg of a parent. Very few pregnancies in which the fetus has Turner Syndrome result in live births. Most end in early pregnancy loss. Most women with Turner syndrome cannot get pregnant naturally.
Why does Turner syndrome only affect females?
The condition only occurs in females. Most commonly, a female with Turner syndrome has only 1 X chromosome. Others may have 2 X chromosomes, but one of them is incomplete. Sometimes, a female has some cells with 2 X chromosomes, but other cells have only 1.
Can Turner syndrome be detected before birth?
Turner syndrome may be suspected by prenatal cell-free DNA screening or certain features may be detected on prenatal ultrasound screening. Prenatal diagnostic testing can confirm the diagnosis.
What is the life expectancy for Turner syndrome?
TS is associated with a 3-fold increase in overall mortality and a life expectancy that is reduced by up to 13 yr (8, 9). Even after exclusion of deaths from congenital heart disease, the mortality rates remain excessive, particularly in women with 45,X monosomy.
How does Turner syndrome affect daily life?
Girls with Turner syndrome usually have normal intelligence, but some may have learning problems, particularly in math. Many also struggle with tasks requiring spatial skills, such as map reading or visual organization. Hearing problems are more common in girls with TS.
How was Turner syndrome discovered?
Turner syndrome was first discovered in 1938 by Dr. Henry Turner while studying a group of 7 girls who all had the same unusual developmental and physical features. Though most people today refer to the condition as Turner syndrome or TS, your doctor may call it gonadal dysgenesis.