Monday, 16 January 2012

turner's syndrome

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Turners Syndrome

H. H. Turner first described Turner syndrome in 18. Dr. Turner observed a set of common physical features in some of his patients. Nonetheless, it was no until 160 that a chromosomal abnormality was found. This is a genetic disorder of the chromosomes affecting females, where one of the two chromosomes is partially or completely absent. A female with Turners syndrome has only one X chromosome in each of her cells due to a non-disjunction event during meiosis of her parents gametes.

Normally, girls have two X chromosomes and males have one X and one Y chromosome. In Turner syndrome, an error very early in development results in an abnormal number, arrangement or damage of the chromosomes. It is common for a patient with Turner syndrome to be born with 45 chromosomes, instead of the normal 46. About one in every two thousand girls born has TS.

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Intellectually, girls with Turner syndrome are not at risk for mental retardation, but may have learning disabilities. Females born with Turner syndrome are below average weight and length, and usually have small, puffy hands and feet. They have a lack of secondary sex characteristics and infertility, a very low hairline, scoliosis curvature of the spine, small lower jaw, webbed necks, broad chests, ovarian failure, and kidney and cardiac anomalies. It is also very frequent for TS patients to have an unusual shape and rotation of the ears, soft upturned nails, pigmented nevi small brown moles and ear, eye and thyroid difficulties.

Turner syndrome victims can overall depending on their conditions lead healthy lives. However, because of ovarian failure, they are unable to have children on their own, if ever at all. Certain deficiencies can affect their quality of life, but without these types of conditions, a person with TS is definitely expected to live a normal life. Support would be necessary for the patient to help them deal with body image issues. Also, helping some women accept the fact that they will never be able to birth children naturally, or on their own.

There is no treatment to completely rid anyone 100% free of Turner syndrome, or the effects. On the other hand, special growth hormones can be given to the patient to help them reach a relatively normal height. Estrogen is also given to aid in obtaining secondary sex characteristics.

Recent studies on Turner syndrome indicate that a lot of the growth deficit in the adolescents can be restored by growth hormones being injected before their full development is completed. Replacement sex hormones, orally administered, will promote pubertal progression. Infertility cannot be altered, but pregnancy can occur through vitro fertilization. Currently, researchers are also trying to find the best way to administer female sex hormones to young girls with Turners syndrome in order for them to achieve sexual maturity. This treatment could provide researchers with important information about how these specific hormones work to provide the patients with complete bone development and growth in children.

In conclusion, Turners syndrome is an extremely complex genetic disorder, affecting many females around the world. Studies are being performed persistently, with hopes of one day successfully finding a treatment. People with Turner syndrome are all different. Some may have all or many of the symptoms while others are lucky enough to only have a few. With appropriate medical treatment and support, victims of TS will be able to lead healthy, normal and productive lives.

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