The phenotype of Turner syndrome is affected by mosaicism, where cell lines with a single sex chromosome are combined with those with multiple. Turner syndrome has a number of physical and psychological impacts, including short stature, heart defects, neck webbing, delayed or absent puberty, and infertility. In 1964, it was determined to be due to a chromosomal abnormality. American endocrinologist Henry Turner first described the condition in 1938. Generally people with TS have a shorter life expectancy, mostly due to heart problems and diabetes. All regions of the world and cultures are affected about equally. Turner syndrome occurs in between one in 2,000 and one in 5,000 females at birth. Medical care is often required to manage other health problems with which TS is associated. Estrogen replacement therapy can promote development of the breasts and hips. Human growth hormone injections during childhood may increase adult height. Diagnosis is based on physical signs and genetic testing. In these cases the symptoms are usually fewer, and possibly none occur at all. The chromosomal abnormality is often present in just some cells, in which case it is known as TS with mosaicism. While most people have 46 chromosomes, people with TS usually have 45 in some or all cells. No environmental risks are known, and the mother's age does not play a role. Turner syndrome is not usually inherited rather, it occurs during formation of the reproductive cells in a parent or in early cell division during development. Vision and hearing problems also occur more often than average. Most people with TS have normal intelligence however, many have problems with spatial visualization that may be needed in order to learn mathematics. Heart defects, diabetes, and low thyroid hormone occur in the disorder more frequently than average. Typically, those affected do not develop menstrual periods, or breasts without hormone treatment and are unable to have children without reproductive technology. Often, a short and webbed neck, low-set ears, low hairline at the back of the neck, short stature, and swollen hands and feet are seen at birth. Signs and symptoms vary among those affected. Turner syndrome ( TS), also known as 45,X, or 45,X0, is a genetic condition in which a female is partially or completely missing an X chromosome. Human growth hormone, estrogen replacement therapy Heart defects, diabetes, low thyroid hormone Webbed neck, short stature, swollen hands and feet Ullrich–Turner syndrome, Bonnevie–Ullrich–Turner syndrome, gonadal dysgenesis 45X, 45X0įive girls and women with Turner syndrome
0 Comments
Leave a Reply. |
AuthorWrite something about yourself. No need to be fancy, just an overview. ArchivesCategories |