Turner Syndrome
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Introduction to Turner Syndrome

Turner syndrome is also known as Bonnevie-Ullrich-Turner syndrome in Europe . Turner syndrome only affects the females. The disease is named after an endocrinologist of Oklahoma named Henry Turner. In 1938, he illustrated the symptoms and treatment of this disease. Dr. Charles Ford was the earliest to present the report of a woman with this syndrome. The most common characteristic of this disease is monosomy X. It occurs in the patients who have single X chromosome instead of XX chromosome. In some exceptional cases, the patient has XX chromosome but the second X chromosome is incapable of doing any normal functions. Prevention of this disease is unknown as the cause is obscure. The sexual characteristics of a female remain underdeveloped affected by this type of disease.

Cure for Turner Syndrome

 The experts have identified several treatments that can reduce the symptoms of Turner Syndrome. However, none of them is certified to cure the disease completely. Researches are in progress to identify the actual treatment for curing the disease. Early commencement of osteoporosis can be checked by oestorogen. Growth hormones are prescribed to increases the growth in teenagers. Food and Drug Administration department of the United States has permitted the use of growth hormone for treating a patient with this syndrome. There are several insurance plans covering this treatment. Growth hormones are effective in the toddlers too. The physicians also use estrogen transplantation therapies. This helps to develop the secondary sexual features in a woman. They are also very important for having strong bones and healthy tissues. This prevents osteoporosis to a great extent. Physicians can prescribe IVF to those people who want to have children. The support of the family is highly beneficial for the patients.

Symptoms of Turner Syndrome

The disease affects the ovaries of a woman. They are incapable of performing proper functions which in teenage often become the cause of underdevelopment of sexual characteristics. These girls in their adulthood often have the chances of becoming infertile if proper treatment of this is not done. Often these girls have difficulty in learning especially mathematics. They might have thyroid, kidney, heart, sight or hearing problems. A girl from her birth might have broad and short neck, prominent ears, swollen feet and hand, broad chest and small height. As she would grow up she would develop her arms that would turn out at her elbow and she would not have thick hairline at the back of her head. The women with Turner Syndrome are usually of short stature.

These women would have sterility in reproduction, the gonadal structures in them are not completely developed and amenorrhea is common in them. The kidney of these women generally resembles a horseshoe. Some of the woman also has osteoporosis as they became adult. The symptoms of this syndrome are different in each female.

Causes of Turner Syndrome

The causes of the disease are not yet identified by the physicians. Some consider this disease to be genetically transmitted. In 1998, Sybert considered the information they possess about this syndrome not enough for making a conclusion about this. The women having similar karyotype group is very rare. For this reason, concluding anything regarding the correlations of phenotype karyotype for the malformation of the cardiovascular muscles is not possible. Other researches state that the diagnosis of the occurrence of mosaicisms in hidden form is generally not done in karyotype study. The relation between the phenotype and karyotype features comprising the malformations of cardiovascular muscles is also not clear.

Diagnosis of Turner Syndrome

There are different measures for the diagnosis of Turner Syndrome. In a pregnant woman, amniocentesis can be useful for diagnosing. In some of the cases, abnormal ultrasound helps to identify fetuses having Turner syndrome. Karyotype is a blood test that helps in examining the composition of chromosome in an individual. Karyotype is the most recognized test for this syndrome. Genetic counseling is recommended for the family who had a child or a pregnancy affected by Turner syndrome.

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