Turner Syndrome Date, Month And Term Paper

Length: 7 pages Sources: 6 Subject: Disease Type: Term Paper Paper: #46933163 Related Topics: Occult, Prostate Cancer, Colon Cancer, Sexual Dysfunction
Excerpt from Term Paper :

Particularly, the risks of diverse neoplasms have been seen to be raised in Turner Syndrome is quite low quantum, however, except for gut cancer and gonaboblastoma in patients having occult Y chromosome sequences. (Cabanas; Garcia-Caballero; Barreiro; Castro-Feijoo; Gallego; Arevalo; Canete; Pombo, 2005)

Additionally, there appear to have no prior indication of the relationship between the Turner Syndrome and papillary thyroid carcinoma, irrespective of the fact that there has been one report of an anaplastic thyroid carcinoma in a TS patient in association with Hashimoto's thyroiditis. Several epidemiological studies and studies relating to exhaustive long-term monitoring of GH-associated patients have been seen to have benefited therapeutically from GH treatment and found to be safe having no detectable effect on risk of cancer. But the current studies have shown a probable relationship between GH-IGF axis and the pathogenesis of neoplasms. The study on papillary thyroid carcinoma after GH therapy for Turner Syndrome has indicated that the probability of a non-causal coincidental association occurs in raising the possibility that under some circumstances GH treatment may have influences unknown to us. On this context it is considered that prospective long-term studies are necessitated to assess the possible effects of GH treatment on cancer risk. (Cabanas; Garcia-Caballero; Barreiro; Castro-Feijoo; Gallego; Arevalo; Canete; Pombo, 2005)

In a study on vasculopathy in Turner Syndrome it is established that women with Turner Syndrome have an increased cardiovascular mortality rate from both structural and ischemic heart disease particularly aortic dissection. This has been established taking the hypothesis of women with Turner Syndrome having a fundamental arterial wall defect that is probably the result of genetic elements or estrogen deficiency. The mortality with suffering from Turner Syndrome is primarily due to cardiovascular complications, by which the life expectancy is expected to be lower to 13 years. (Ostberg; Donald; Halcox; Storry; McCarthy; Conway, 2005)

The most acute threat is dissection or rupture of the aorta that attributes to about 2-8% death in women. Dilatation of the root of the aorta, hypertension and bicuspid aortic valve has been indicated as predisposing factors for aortic dissection. Additionally, the mortality as a result of ischemic heart disease is increased up to 7 fold in women with Turner Syndrome. The elements of threat for ischemic heart disease reported in Turner Syndrome among others are hypertension, diabetes mellitus, dyslipidemia, obesity and estrogen deficiency; however, the brief mechanisms for increased cardiovascular risk in TS are not clear. The study establishes that wide structural vascular differentiations in women with TS featured by enlargement of conduit arteries and enhanced carotid initial thickening, in comparison to normal regulations. Irrespective of the fact that it indicates common underlying mechanisms at least a portion is responsible. (Ostberg; Donald; Halcox; Storry; McCarthy; Conway, 2005)

The strategy to reduce the prevalence of turner syndrome begins with increased awareness of the fragile X syndrome in the medical and teaching professions, so that ever more children are diagnosed through the general medical services. It has been indicated that in the first phase of the case finding in schools and sheltered workshops and cascade testing in the families are to be followed by a different strategy. Two possibilities have been considered in such cases. The first strategy is to detect 1 or 250 women with permutations prior to or immediately after


This could be performed in high schools or in prenatal clinics, however, practical difficulties prevail. Women are having two X chromosomes, each of which has its own set of CCG repeats. In case of 30% of women their repeat numbers are similar so that a screening program applying polymerase chain reaction methods also required being applied Southern blot analysis in this subgroup. (Turner; Robinson; Wake; Laing; Partington, 1997)

It has been estimated to have at least 80 invasive prenatal tests for identification of one affected male, which implies consultation of those 80 women and their immediate relatives. The second strategy is to include examination of affected males into routine newborn screening programs using DNA from Guthrie spot. There should be automation of the infrastructure for the collection of specimens in place and laboratory tests. Irrespective of the fact that informed consent prior to collection would be essential; no large expansion of counseling service is required. The screening programs for comparable newborn have been established to identify boys with Duchenne muscular dystrophy. The case findings as a result of cascade testing seem to be highly successful. An outreach proactive program is also felt necessary with such syndrome. About fifty percent of women with the fragile x full mutation is to some extent have some degree of intellectual disability. This along with the burden caring for one or more children with the fragile X syndrome, increases considerable odds against their seeking a diagnosis and obtaining genetic counseling. Such a program necessitates adequate laboratory setup and devoted team of genetic counselors who well support such families in the long-term. (Turner; Robinson; Wake; Laing; Partington, 1997)

The Turner Syndrome Association of Australia endeavors to extend support and encouragement to all Turner Syndrome individuals and their families. They also bring out a newsletter and have meetings on a regular basis and also arrange social family outings. The association strives to entail information not only to its members but also to the medical personnel associated with Turner Syndrome. They also raise funds for intensive studies on the issue and also for other purposes in support of Turner Syndrome. Thus the awareness programs are the prime activities to fight Turner Syndrome. For this emphasis is laid upon support research, family education, service and support, public education, education of health care professionals, advocacy on behalf of individuals with growth problems and their families. The organizations and associations strive to assist individuals with growth related disorders, their families and health care professionals in terms of extensive research and advocacy. (Turner Syndrome Association of Australia)


Cabanas, P; Garcia-Caballero, T; Barreiro, J; Castro-Feijoo, L; Gallego, R; Arevalo, T;

Canete; R; Pombo, M. (2005) "Papillary thyroid carcinoma after recombinant GH therapy for Turner syndrome" European Journal of Endocrinology. Vol: 153; No: 4; pp: 499-502

Dowshen, Steven. (2005) "Turner Syndrome" Retrieved at http://www.kidshealth.org/teen/diseases_conditions/genetic/turner.html. Accessed 8 November, 2006

Gordon, John D; Lebovic, Dan I; Taylor, Robert N. (2005) "Reproductive Endocrinology and Infertility: Handbook for Clinicians" Scrub Hill Press, Inc.

Hepworth, Sandra. L; Rovett, Joanne, F. (2006) "Visual Integration Difficulties in a 9-year-old girl with Turner Syndrome: Parallel Verbal Disabilities?" Child Neuropsychology. Vol: 6; No: 4; pp: 262-273.

Ostberg, Julia E; Donald, Ann E; Halcox, Julian P. J; Storry, Clare; McCarthy, Carolyn;

Conway, Gerard S. (2005) "Vasculopathy in Turner Syndrome: Arterial Dilatation and Intimal Thickening without Endothelial Dysfunction" The Journal of Clinical Endocrinology & Metabolism. Vol: 90; No: 9; pp: 5161-5166

Rieser, Patricia A. (2004) "Turner Syndrome" Retrieved at http://www.hgfound.org/turner.html. Accessed 8 November, 2006

Medical Genetics -Turner Syndrome" Retrieved at http://www.healthsystem.virginia.edu/uvahealth/peds_genetics/turner.cfm. Accessed 8 November, 2006

Turner, Gillian; Robinson, Hazel; Wake, Samantha; Laing, Susan; Partington, Michael. (November, 1997) "Case finding for the fragile X syndrome and its consequences" British Medical Journal. Vol: 315; No 3; pp: 1223-1226

Turner Syndrome Association of Australia" (2006) Retrieved at http://www.mivf.com.au/ivf/support/supportgroups-sub.asp?id=7&cat=sub14Accessed 10 November, 2006

What is Turner Syndrome?"…

Sources Used in Documents:


Cabanas, P; Garcia-Caballero, T; Barreiro, J; Castro-Feijoo, L; Gallego, R; Arevalo, T;

Canete; R; Pombo, M. (2005) "Papillary thyroid carcinoma after recombinant GH therapy for Turner syndrome" European Journal of Endocrinology. Vol: 153; No: 4; pp: 499-502

Dowshen, Steven. (2005) "Turner Syndrome" Retrieved at http://www.kidshealth.org/teen/diseases_conditions/genetic/turner.html. Accessed 8 November, 2006

Gordon, John D; Lebovic, Dan I; Taylor, Robert N. (2005) "Reproductive Endocrinology and Infertility: Handbook for Clinicians" Scrub Hill Press, Inc.

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