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Turner Syndrome

Presentation By JJ. Turner Syndrome. What is Turner Syndrome?. Turner syndrome is a genetic condition where there is no usual pair of two X chromosomes in the female

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Turner Syndrome

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  1. Presentation By JJ Turner Syndrome

  2. What is Turner Syndrome? • Turner syndrome is a genetic condition where there is no usual pair of two X chromosomes in the female • A normal female usually has two X chromosomes, but those with Turner Syndrome are either missing one of the X chromosomes or one of the X chromosomes are experiencing abnormality like missing information • Only females are affected by this condition • Turner Syndrome affects the endocrine and reproductive system • This condition is congenital meaning that it begins as soon as the female is born

  3. History • The History of Turner Syndrome first began in 1938 • An Endocrinologist named Henry Turner • described 7 of his female patients between the ages of 15 and 23 who lacked sexual development • He also made a reference to dwarfism(short height in childhood) since one of the symptoms of Turner Syndrome was short height • Tried treating patients with pituitary extracts to help control their growth but it was ineffective

  4. Causes • Scientists believe that an error during the division of the parent’s sex cells is the cause of Turner Syndrome • Believe that Turner Syndrome is typically caused by nondisjunction • if a pair of sex chromosomes fail to separate during formation of an egg

  5. Causes continued… • Another cause is the missing of the Short stature homeobox gene also known as the SHOX gene • The SHOX gene is the gene responsible for long bone growth which helps regulate development • The missing of this gene contributes to the reason why females with Turner Syndrome are unusually short • But the EXACT cause is currently unknown

  6. Symptoms The Symptoms of Turner Syndrome depend on the Females Age For Infants Symptoms include: • Swollen Hands and feet • Wide and Webbed Neck As females tend to get older the following symptoms start to occur: • Absent or incomplete development in puberty • Flat chest • Drooping eye lids • Dry eyes and infertility • Short Height • Ovary failure

  7. Symptoms continued...

  8. Diagnosis For Females with Turner Syndrome can be diagnosed any time in life a doctor will perform a physical exam and look for underdevelopment tests that also include: • Blood hormone levels • Karyotyping • MRI Scan of the chest • Ultrasound of reproductive kidneys and organs • Pelvic Exam

  9. Diagnosis continued...

  10. Prevention and Treatment • Human growth hormones such as estrogen can be injected into the person to help improve growth • Ovary failures lead to lack of estrogen for the female and ovary failures occur in most patients • Currently no treatment to correct chromosome abnormality that causes Turner Syndrome • So far there is no prevention for Turner Syndrome but the condition is still currently being researched

  11. Interesting Facts • Females with Turner Syndrome can live a normal life but must be closely monitored by a doctor • Chances of being affected by Turner Syndrome are one in every 2,000-2500 girls • Women with Turner Syndrome are usually 4ft. 8 inches tall • Fewer than 5% of females with this condition will maintain enough ovarian function for pregnancy

  12. More Interesting Facts • Females who have this condition may feel a lack of self-esteem since Turner Syndrome affects the way their body looks Some alternate names for Turner Syndrome: • Bonnevie-Ulrich Syndrome • Gonadal dysgenesis • Monosomy X

  13. Bibliography Varmus, Harold, and Robert Weinberg, VH, RW.(2002). Turner Syndrome. Medical Guide (Volume 3, 2330.Par-Z). Pasadena, California: Salem Press, Inc Medscape Education . (2011). Turner Syndrome: Toward Early recognition and Improved outcomes. Retrieved November 8th 2011 from http://www.medscape.org/viewarticle/445555 Teenshealth.(2011). Turner Syndrome. Retrieved November,8, 2011 from http://kidshealth.org/teen/diseases_conditions/genetic/turner.html Genetic Science learning center. (2011). Turner Syndrome. Retrieved November 8th 2011 from http://learn.genetics.utah.edu/content/disorders/whataregd/turner/ Healthline.(2005). Disease and Conditions Turner Syndrome. Retrieved October 12th, 2011, from http://healthline.com/adamcontent/turner-syndrome

  14. Bibliography Picture Sources: http://www.socialregister.co.uk/henry-turner/ http://www.graphicshunt.com/health/images/turner_syndrome-1928.htm http://newborns.stanford.edu/PhotoGallery/Turners3.html http://learn.genetics.utah.edu/content/disorders/whataregd/turner/ http://www.genetics.edu.au/factsheet/fs32 https://honors.rit.edu/amitraywiki/index.php/User:Glitzyjenner http://yourlife.usatoday.com/health/medical/breastcancer/story/2011-10-21/Breast-cancer-risk-may-rise-with-high-hormone-levels/50857230/1

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