A rare genetic disorder in women that is characterized by the absence of an x chromosome.
Characterized by retarded growth that leads to a small stature and frequent infertility. Individuals with Turner syndrome report an increased incidence of fractures in childhood and osteoporotic fractures in adulthood. The incidence of diabetes mellitus has been reported increased in Turner syndrome. Ischemic heart disease, stroke, and hypertension are also more common.
Growth in children with Turner syndrome is characterized by a slight intrauterine growth retardation, relatively normal growth rates for the first several of life, a progressive deceleration of growth later in childhood, and the lack of a pubertal growth spurt.
They can have a webbed neck and learning difficulties.
Not necessarily shows while a baby.
Can make you shout out random word randomly.
Described by Dr. Henry Turner in 1938, this disorder in due to a deficiency in the amount of genetic material on the X-chromosome, one of the two sex chromosomes.
Turner syndrome is not inherited. It results from a mistake that occurs after fertilization during cell division, causing one X chromosome to be completely lost or significantly damaging it. (Deletion)
Can be caused by environmental factors.
Autoimmune mechanisms probably play a role.
Experts suggest screening for aortic dissection, although the specific timing for this screening is controversial. Plastic surgery to correct webbing of the neck should be considered at an early age, before entering school, for girls with Turner syndrome.
Most individuals with Turner syndrome require female hormone therapy to promote development of secondary sexual characteristics and menstruation. The time of beginning therapy varies with individuals. Experts recommend that therapy begin when a woman expresses concern about her onset of puberty.
All women receiving long-term, exogenous female hormone therapy require periodic gynecological examinations, because those with Turner syndrome have an increased risk of developing neoplasms such as gonadoblastoma and dysgerminoma, which arise from their rudimentary streak gonads.
Most women with Turner syndrome can live relatively normal lives. The prognosis for a person with Turner syndrome is dependent on other conditions that may be present. Care must be taken to regularly monitor the health problems that are associated with Turner syndrome. For example, heart or kidney defects, hearing loss, or the development of inflammatory bowel disease may significantly affect the quality of life. Without these types of conditions, however, their life expectancy is close to normal. Support will be necessary to help an adolescent girl cope with body image issues and to help some women accept the fact that they will never be able to have children.
Turner syndrome is a genetic disorder that cannot be prevented. Prenatal testing may give parents information about whether their child has Turner syndrome and prepare them to make decisions about the child's future.
Testing and Screening:
Turner syndrome is diagnosed on the basis of genetic analysis of chromosomes. This can be done prior to birth or after birth.
This condition can…