Turner Syndrome By Rohan Suppal What is Turner

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Turner Syndrome By: Rohan Suppal

Turner Syndrome By: Rohan Suppal

What is Turner Syndrome? • It is a chromosomal abnormality occurring only in females

What is Turner Syndrome? • It is a chromosomal abnormality occurring only in females • It is the condition of complete or partial deletion of the X chromosome. • Name after Dr. Henry Turner who, in 1938 described several women patients with similar physical features including short stature and the absence of female sexual characteristics

How is Turner Syndrome Caused? • This abnormality cannot be inherited from affected parents

How is Turner Syndrome Caused? • This abnormality cannot be inherited from affected parents • Caused by a process called nondisjunction. • In TS, there is only one X chromosome instead of the usual two (45 X or 45 X 0)

 • The missing X chromosome is either from the mother’s egg or the

• The missing X chromosome is either from the mother’s egg or the father’s sperm is an accident and is lost during cell division. • Sometimes the X chromosome is missing from only some of the cells, resulting in a condition called Turner mosaic.

Symptoms Common Symptoms of the disease are: • Height is shorter than average and

Symptoms Common Symptoms of the disease are: • Height is shorter than average and no sexual growth or physical development after reaching puberty • Non functioning ovaries is another symptom of Turner Syndrome

Other Symptoms • Broad chest and widely spaced nipples • An especially wide neck

Other Symptoms • Broad chest and widely spaced nipples • An especially wide neck and a low or indistinct hairline • Puffy hands and feet • Kidney, urinary tract, thyroid and heart problems • Myopia and droopy eyelids • Diabetes mellitus

Diagnosis at birth • A newborn needs heart surgery because of the contraction of

Diagnosis at birth • A newborn needs heart surgery because of the contraction of the aorta or because of swelling of hands and feet • Pre natal diagnosis is done by chronic sampling or ultra sound

Diagnosis in early childhood or later • If a doctor sees some signs of

Diagnosis in early childhood or later • If a doctor sees some signs of TS he will order a special type of blood test called karyotype • Failure in growth • Absence of pubertal growth spurt or absence of secondary sexual characteristics

Other Health Concerns • • Kidney Problems High Blood Pressure Overweight Hearing Difficulties Diabetes

Other Health Concerns • • Kidney Problems High Blood Pressure Overweight Hearing Difficulties Diabetes Cataract Problems Learning difficulties, especially in Mathematics

 • In a clinical study of 39 Victorian women with TS, the following

• In a clinical study of 39 Victorian women with TS, the following comorbidities were observed

Treatment • There is no specific cure • Scientists have developed a number of

Treatment • There is no specific cure • Scientists have developed a number of treatments that can correct some of the problems associated with TS. • Pediatric endocrinologist followed by an attendance at an adult TS clinic where a gynecologist / obstetrician along with a cardiac specialist is present.

 • Growth hormone injections may increase the adult height by a few inches

• Growth hormone injections may increase the adult height by a few inches • Estrogen replacement therapy is started around puberty to start breast development • Estrogen is also given to prevent osteoporosis. • A cardiologist and an ENT specialist can help cure heart and hearing problems respectively • Regular health checks at a TS clinic are a must for the women with TS.

Conclusion • Along with physical disabilities there is also a lot of psychological stress

Conclusion • Along with physical disabilities there is also a lot of psychological stress that goes along in this disease • This can lead to low self esteem and a consultation with a psychologist might help in this case • Thanks to advancements in the field of medicine that these women have found a place for themselves in society.

Works Cited • Pedreira, CC, et al. "Health-care problems of Turner syndrome in the

Works Cited • Pedreira, CC, et al. "Health-care problems of Turner syndrome in the adult woman: a cross sectional study of a Victorian cohort and a case for transition. " Internal Medicine Journal 36. 1 (2006): 54 -57. CINAHL Plus with Full Text. EBSCO. Park University Library, Parkville, MO. 25 July 2008 <http: //search. ebscohost. com/login. aspx? direct=true&db=rzh&AN=2009114401&si te=ehost-live>. • "Turner Syndrome. " Learn Genetics: Genetics Science Learning Center at the University of Utah. 27 May 2008. The University of Utah. 25 Jul 2008 <http: //learn. genetics. utah. edu/units/disorders/whataregd/turner/>. • Paul, Thomas V. , et al. "A case of Turner syndrome with hyperparathyroidism in an adult. " ENT: Ear, Nose & Throat Journal 87. 2 (Feb. 2008): 110 -112. Master. FILE Premier. EBSCO. Park University Library, Parkville, MO. 19 July 2008 <http: //search. ebscohost. com/login. aspx? direct=true&db=f 5 h&AN=31132652&site =ehost-live>.

 • Dowshen, Steven. "Turner Syndrome. " Teens Health. Jan 2005. Nemours Foundation. 25

• Dowshen, Steven. "Turner Syndrome. " Teens Health. Jan 2005. Nemours Foundation. 25 Jul 2008 <http: //kidshealth. org/teen/diseases_conditions/genetic/turner. html>. • "Learning About Turner Syndrome. " National Institutes of Health. 29 May 2008. National Human Genome Research Institute. 25 Jul 2008 <http: //www. genome. gov/19519119>. • "What is Turner Syndrome (TS)? " Turner Syndrome Support Society. 25 Jul 2008 <http: //www. tss. org. uk/whatis. htm>.