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What is Turner's syndrome?

Turner syndrome can prove a debilitating illness for most patients. It may be the source of their heart and kidney anomalies, and even infertility. This disease is a very fascinating one, in the sense that it arises from origins that are invisible to the naked eye.

Introducing Turner syndrome

Turner syndrome, sometimes called Turner's disease, is a disease with genetic origins. This condition takes its name from Dr Henry Turner who first noticed it among his patients in the 1930s.This condition is best compared to the common condition Down's syndrome, in which the person has an extra chromosome, adding up to 47 chromosomes in all, instead of the regular 46. While Down's syndrome affects both sexes, Turner syndrome only affects girls, and arises from the absence of an X chromosome in each or some cells. As a result, a female with Turner syndrome may have 45 chromosomes in all, including a single X chromosome. Normally, girls are born with two X chromosomes per cell and boys have an X and a Y. Turner syndrome, though commonly caused by the absence of an X chromosome, may be also caused by a faulty chromosome or mixture of problems in which some cells lack a chromosome and other cells possess an extra chromosome (Source: Foreman, 2009).

Turner syndrome symptoms

Turner syndrome symptoms are quite numerous and distinctive. Women with this condition are usually short in stature, measuring about 4 feet 8 inches. Other symptoms include loose skin folds around neck in infancy, a low hairline at the back of the neck, infertility, heightened risk of heart and kidney defects, underdeveloped nails, a broad chest with widely spaced nipples, learning challenges, along with the inability to fully extend the arms at the elbow. Like Down's syndrome, Turner syndrome patients also have a characteristic facial appearance. Surprisingly, this disease may also be spotted with the use of an ultrasound. In this case, the foetus usually displays a fluid-filled cyst at the back of its neck, along with oedema or excessive bodily fluids (Source: Fraser, 2007).

Diagnosis and Treatments

As regards to diagnosis, chromosome analyses are often carried out to examine the number of chromosomes and their features. This may be undertaken either before or after birth. Additionally, patients are usually given growth hormones at an early age in order to improve their stature. Owing to the relatively wide spectrum of traits of the disease, treatment tends to be based on individual complaints. As a result, some women may require physiotherapy, assistance with getting pregnant and so on. Turner syndrome is, in fact an incurable disease but patients may be able to achieve a near normal quality of life after intervention. (Sources: Braun et al, 2006).

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