Turner Syndrome

Turner syndrome

Condition: Definition
Turner syndrome is a chromosomal disorder affecting females wherein one of the two X-chromosomes is defective or completely absent
Chromosomes contain thegenetic information necessary to direct the growth and normal functioning of all cells and systems of the body.
In Turner syndrome, an error occurring very early in development results in an abnormalnumber and arrangement of chromosomes. Most commonly, an individual with Turner syndrome will be born with 45 chromosomes in each cell rather than 46. The missing chromosome is an X-chromosome. Theaffected person is always female.
The prevalence of Turner syndrome is widely reported as being approximately one per 2,000 live female births,

Causes and symptoms
Turner's syndrome is a disorderassociated with characteristic defects in the X-chromosome. The most common presentation is a female with a single X-chromosome and an absent X-chromosome.
Turner syndrome is characterized byretarded 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. Theincidence of diabetes mellitus (both insulin dependent and noninsulin dependent varieties) has been reported to be increased in Turner syndrome. Ischemic heart disease, stroke and hypertension are alsomore common.

Diagnosis
Turner syndrome is diagnosed on the basis of genetic analysis of chromosomes. This can be done prior to birth. However, the predictive value of amniocentesis in diagnosingTurner syndrome varies from 21-67%. There is no significant relation between the mother's age and risk of Turner's syndrome.

Treatment
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