Turner Syndrome

Turner Syndrome

Date, Month and Year

One among every two thousand girls in Australia presently is being affected by Turner Syndrome -- TS. The presence of the turner syndrome is diagnosed by an examination of the chromosomes from a blood sample. A chromosome is defined as a string of genes available in every cell in the body. Generally, each of the cells has about twenty-three pairs of chromosomes resulting in forty six chromosomes in total. One of such pairs known as the sex chromosome finds out the gender of the fetus. Among the girls with Turner Syndrome there normally is an X chromosome or part of one missing in all or few of the cells. (What is Turner Syndrome?)

The short stature and slow growth of a child is determined by many factors that includes, hereditary elements, ailments calling upon kidneys, heart, lungs or intestines, hormone imbalances, severe stress or emotional deprivation, infection in the womb prior to birth, bone ailments, and genetic or chromosomal abnormalities. During 1938, Dr. Henry Turner acknowledged the pattern of short stature and inadequate sexual maturation in other than normal females. This has been accorded the name of Turner Syndrome after the name of Dr. Turner. A Syndrome is typically found to have a combination of features mostly noticed in combination with the others and believed to result from the same cause. (Rieser, 2004)

The researchers have not found out yet as to exactly what causes Turner Syndrome, but they have been confirmed that those are the result of the missing X chromosomes. The effect of the Turner Syndrome varies among the girls in consonance with the influence of such variation of the X chromosomes on the body cells. Girls suffering from Turner Syndrome normally are short in height mostly attaining the average height of about 4 feet 7 inches. Besides, the presence of Turner Syndrome inhibits proper development of the ovaries thereby adversely influencing the sexual development of the girl. Since the ovaries helps in creation of hormones that regulates the growth of breast and menstruation, normally girls suffering from Turner Syndrome are not able to undergo all the changes occurring after attainment of puberty. Almost all the girls are seen to be infertile and not able to become pregnant on their own. (Dowshen, 2005)

Moreover, along with their short stature and sexual deficiency, the girls suffering from Turner Syndrome also suffer from a 'webbed' neck that indicates extra folds of skin extending from the tops of the shoulders to the sides of the neck; at the back of the neck there exists a low hairline; their eyelids seem to be drooping; the shape of the ears differ from each other and are found to be set lower on the sides of the head than usual; and there is abnormal bone development particularly the bones of the hands and elbows; the number of moles on the skin are abnormally large. Several health problems occur among the girls suffering from Turner Syndrome. The common ailments found among them are high blood pressure, cardiac problems, and overweight, cataracts, diabetes, hearing impairments, kidney problems and thyroid problems. (Dowshen, 2005)

It is evident that some of the girls having Turner Syndrome exhibit learning disabilities, especially with regard to Math. At times some find it difficult to cope with the subjects like map reading or visual organization. Besides, Turner Syndrome has a great influence on the physical look and development of the affected girl. As a result of this it greatly calls upon the way a girl looks and develops. The patients with Turner Syndrome are found to be quite different from each other. Some are found to have many physical abnormalities and symptoms while some undergo only a few medical complications. Irrespective of the fact that girls having Turner Syndrome have some learning disabilities the majority is normally capable of writing well, learning well by hearing, able to memorize information and also others and develop good language skills. Irrespective of the fact that Turner Syndrome affects one's like in varied ways still a small portion of the total physical, emotional and intellectual self only is considered to be influenced by such ailment. (Dowshen, 2005) Turner syndrome is seen to have the attributes of neuropsychological profile of strengths in verbal processing and particularly related to a deficiency in processing visuospatial information and the verbal abilities consistent with the Nonverbal Learning Disabilities syndrome. (Hepworth; Rovett, 2006)

Turner Syndrome seen to have resulted in strabismus amblyopic and ptosis; increasing risk of congential hip dislocation and also associated with degenerative arthritis of the hips in case of other women; there is an apprehension for obesity; symptoms for initiation of growth hormone or estradiol; possible increase in the risk of insulin resistance. (Gordon; Lebovic; Taylor, 2005) Mental disabilities are, however, not characteristics of Turner Syndrome, irrespective of such references in the traditional medical books. Intensive study on the psychology of the girl children with the Turner Syndrome reveal about their normal intellectuality, however sometimes having an attribute of intellectual malfunctioning. Their verbal IQ normally ranges from average or above while their non-verbal IQ may be significantly lower as a result of the problems visualizing objects with regard to each other. Such disabilities may give rise to poor achievement in respect of math, geometry, and tasks necessitating manual dexterity or sense of direction. (Rieser, 2004)

Turner syndrome is thus found to be a genetic disorder visualized in girls that results in shorter stature in comparison to that of others and experience sexual disability at their adulthood. Turner Syndrome is normally associated with the term of monosomy that indicates lack of one member of a pair of chromosomes resulting in only 45 chromosomes in each cell of the body instead of the usual 46. In reproduction, usually the egg cell of the mother and the sperm cell of the father initiates with the usual number of 46 chromosomes. The egg and sperm cells usually go through cell division, when the usual 46 chromosomes are split into half and the egg and sperm cells remain to contain 23 chromosomes each and the cells in baby attains a complete set of 46 chromosomes half from the father and half from the mother. (Medical Genetics -Turner Syndrome)

However, in rare cases some error results in formation of an egg or sperm cell resulting in missing sex chromosomes. Such a failure of the cell to contribute a sex chromosome to the embryo in order to have only one X sex chromosome, results in Turner Syndrome. Since missing of a chromosome instead of the usual pair is regarded as monosomy, the Turner Syndrome is also regarded as the monosomy X. The error of missing sex chromosome may result from either the mother's egg cell or the father's sperm cell, irrespective of the fact that error occurs when the father's sperm cell is forming, the missing sex chromosome error can occur in either the mother's egg cell or the father's sperm cell. It has still been unrevealed, whether the father could have done or not done that would have caused or prevented the sperm from having a missing sex chromosome. (Medical Genetics -Turner Syndrome)

Moreover, the probability of occurrence of Turner Syndrome cannot, therefore, be attributed to the increasing age of mother. It has been seen that about 50% of the cases of Turner Syndrome occurs from full monosomy X. About 40% of the cases are found to be 'mosaic' that indicates the missing of X chromosomes in some cells and with normal number of chromosomes in others. The missing of a portion of X chromosome is known as deletion. Girls identified to have deletion normally have a milder feature of the syndrome. The physical symptoms and disability of the girls having Turner Syndrome mostly depend upon the part of the X chromosome which is missing. (Medical Genetics -Turner Syndrome)

Turner Syndrome is thus found to be a chromosomal alteration as result of the missing or structural anomaly of one X chromosome. The primary symptom of the patients suffering from Turner Syndrome is seen to be retarded growth and gonadal dysgenesis. Turner Syndrome has been taken for some years as the symptoms for growth hormone -- GH treatment, normally with effective results. However, the long run influence of this treatment in non-GH deficient patients is not fully acknowledged. Recent case studies have indicated a positive correlation between the GH-insulin-like growth factor-I or IGF-I axis and the pathogenesis of neoplasias like prostate, colon, breast, lung and bladder, irrespective of the fact that the mechanisms of the putative influence have not been proved. (Cabanas; Garcia-Caballero; Barreiro; Castro-Feijoo; Gallego; Arevalo; Canete; Pombo, 2005)

In a case-study of two unrelated children suffering from Turner Syndrome with detection of papillary thyroid carcinoma, one was during administering of GH treatment and in another were several years after GH treatment. Irrespective of the fact that there may be the possibility of the papillary thyroid carcinoma and Turner Syndrome found to be independent pathologies whose occurrence may be accidental,…