Turners Syndrome


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Turners Syndrome

  1. 1. By Linda, Kianna, and Krystal
  2. 2. Agenda  Definition  History  Diagnosis  Symptoms  Treatment  Patients  Research  Questions  Resources  Ending Comments
  3. 3. History
  4. 4. History  Named after Henry Turner, the endocrinologist who described this condition in 1938.  He described 7 patients between the ages of 15 and 23, who were referred to him for dwarfism and lack of sexual development
  5. 5. Definition
  6. 6. What is Tuner’s Syndrome? A g ne d o e in g c us db am s o d fe tive e tic is rd r irls a e y is ing r e c X (fe a ) c m s m . m le hro o o e
  7. 7. How does it Occur?  The human cells have 22 pairs of chromosomes and 1 pair of sex chromosomes (called X &Y). A female usually has XX chromosomes whereas a male has XY chromosomes.  These sex chromosomes determine the gender of a person, the height as well as development of sexual organs.  During mitosis only one X chromosome transfers to the egg for a female baby.
  8. 8. Diagnosis  Amniocentesis the prenatal diagnosis of chromosomal abnormalities during pregnancy.  Chromosome analysis.  Finding the specific chromosome problem of the syndrome is the only definitive diagnosis.  Learning problems that lead to difficulty with math and spatial relationships between objects.  Blood Hormone levels  Echocardiogram (heart ultrasound)  MRI of Chest  Ultrasound of reproductive organs and kidneys  Pelvic Exam
  9. 9. Symptoms  short stature (affects almost all girls with Turner, to different degrees)  failure of ovaries to develop (90-95% of girls)  webbed neck (25%) or short neck (40%)  abnormal fingernails and toenails (70%)  low hairline at neck (40%)  heart defect (30%)  kidney or urinary tract defect (30%)  hearing disorders (50-90%)  frequent ear infections in childhood (75%)  shortening of bones in the hands (35%)  lower jaw smaller than normal (60%)  drooping eyelids (ptosis), wandering eyes (strasbismus) Women with Turner syndrome are more likely to develop high blood pressure, diabetes and thyroid disorders
  10. 10. Treatment  Hum n Gro th Ho o a w rm ne  Es g n tro e  P g s ro ro e te ne  - Se Func nsa no a - x tio re rm l
  11. 11. Infertility  Adopt Children  In Vitro-Fertilization  Some may have Children (rare cases)
  12. 12. Patients  Suggestions that can help you cope:  Join a support group for girls with Turner syndrome.  Ask your doctor or parents for more information.  Stay active in sports or hobbies that you enjoy.  Consider doing volunteer work. Helping other people can boost your self-esteem and your confidence, too.
  13. 13. Patients  Consider talking to a professional therapist. A qualified counselor or other mental health professional can help you build your self-esteem and address your concerns about living with Turner syndrome.  Discuss this with your parents if you think you might need help.  Keep a journal or diary in which you can record your thoughts and feelings about the challenges you're dealing with.  Talk to school counselors if you are having problems at school.
  14. 14. Research  Growth Hormone Treatment of Women With Turner Syndrome Condition: Turner Syndrome Interventions: Drug: Growth Hormone; Drug: Placebo; Other: Healthy controls  Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Conditions: Turner Syndrome; Hypogonadism; Premature Ovarian Failure Interventions: Drug: 17 B estradiol orally; Drug: 17 B estradiol
  15. 15. Research  Dry Eye in Women With Turner Syndrome and Women With Prema Conditions: Turner Syndrome; Ovarian Failure, Premature; Sex Chromosome Aberrations; Menopause; Perimenopause  Sex Differences in Early Brain Development; Brain Development in Condition: Turner Syndrome  Long-Term Growth and Skeletal Effects of Early Growth Hormone T Condition: Turner Syndrome Intervention: Drug: Somatropin
  16. 16. Resources w ww .turne ynd m .o rs ro e rg w ww .nlm .nih.g v/m d p /turne ynd m .htm o e line lus rs ro e l  nic .nih.g v hd o
  17. 17. Questions?
  18. 18. Ending Comments  The a p s re re o itiveo o e . utc m s http://www.youtube.com/watch?v=56ujy218Kag
  19. 19. Quiz  Definition?  Diagnosis?  Symptoms?  Treatment?
  20. 20. The End