1. Turner Syndrome
By: Rohan Suppal

2. 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

3. 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 (45X or 45X0)

4. 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.

6. 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

7. 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

8. Diagnosis 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

9. 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

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

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

12. 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.

13. 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.

14. 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.

15. 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): CINAHL Plus with Full Text. EBSCO. Park University Library, Parkville, MO. 25 July 2008 <
"Turner Syndrome." Learn Genetics: Genetics Science Learning Center at the University of Utah. 27 May The University of Utah. 25 Jul 2008 <
Paul, Thomas V., et al. "A case of Turner syndrome with hyperparathyroidism in an adult." ENT: Ear, Nose & Throat Journal 87.2 (Feb. 2008): MasterFILE Premier. EBSCO. Park University Library, Parkville, MO. 19 July 2008 <

16. Dowshen, Steven. "Turner Syndrome. " Teens Health. Jan 2005
Dowshen, Steven. "Turner Syndrome." Teens Health. Jan Nemours Foundation. 25 Jul 2008 <
"Learning About Turner Syndrome." National Institutes of Health. 29 May National Human Genome Research Institute. 25 Jul 2008 <
"What is Turner Syndrome (TS)?" Turner Syndrome Support Society. 25 Jul 2008 <