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Turner Syndrome

Turner Syndrome. Sex chromosome abnormality in females where one X chromosome is missing. Normal Vs. Turner Syndrome Chromosomes. http://www.explorelearning.com/ELContent/gizmos/ELScience_Deliverable/ExplorationGuides/images/EL_MSLS_KaryotypeHum4.gif. Definition/History.

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Turner Syndrome

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  1. Turner Syndrome Sex chromosome abnormality in females where one X chromosome is missing

  2. Normal Vs. Turner Syndrome Chromosomes http://www.explorelearning.com/ELContent/gizmos/ELScience_Deliverable/ExplorationGuides/images/EL_MSLS_KaryotypeHum4.gif

  3. Definition/History • Identified by Dr. Henry Turner in 1938 • Discovered as being sex chromosome abnormality in 1959 by Dr. C.E. Ford • Most common type of gonadal dysgenesis • Gonadal Dysgenesis: having abnormal ovaries

  4. Causes • Congenital disorder • Cause is unknown • Suspected results from error during division of parent’s sex cells • Congenital: begins at birth

  5. Effects • Reproductive system • 1:2500 conceived girls • Difficulty learning in certain areas www.4girls.gov/body/reproductive_system_pelvis.gif

  6. Symptoms: At Birth • Puffy hands and feet at birth • Webbed neck • Soft fingernails that turn up at the end • Ovarian failure • Cause serious birth defects

  7. Symptoms: Possibilities: Throughout life: • Height • Childlike appearance & internal reproductive organs • Undeveloped breasts • Little/no pubic/underarm hair • Streak gonads • Kidney abnormalities • Heart problems • Hearing • Thyroid hormone deficiency

  8. Diagnosis • Diagnosed by pediatrician or geneticist • Occurs during infancy or early childhood • Best type of test: karyotype • May use ultrasound to check ovaries & uterus • Karyotype: picture of chromosomes lined up in corresponding pairs

  9. Treatments • Cannot be cured • Injections of human growth hormones • Additional treatment for: kidney abnormalities(20-30%)  heart hearing  Thyroid Hormone Deficiency • Thyroid hormone: increase protein synthesis in virtually every body tissue & increase oxygen consumption dependent upon Na+ -K+ pump

  10. Routine Treatment: • After diagnosis: girl &family to pediatric endocrinologist • @ 10 yrs: low dose of androgen or estrogen • @13/14 yrs: receive estrogen & progesterone • pediatric endocrinologist: specializes in children’s hormone & growth problems

  11. Research • Continuing researching best ways to administer female sex hormones for max. bone development & growth • Main risk factor is mother’s age • Long term studies underway for biosynthetic growth hormone • No cure

  12. Research Osteoporosis: • Estrogen deficiency well-known cause • Estrogen treated women same amt. Of disease as normal women • Estrogen should start by 16 until 45 depending on risks and benefits

  13. Research • Women with turner syndrome have more LDL cholesterol than women with pre-mature ovarian failure • Higher risk of heart disease • Must watch weight and exercise

  14. Reference Page (Feb. 10 2005). NIH Turner Syndrome Study Newsletter. Turners.nichd.nih.gov/NIH_TS_Study_newsletter.html Boyse, Kyla. (June 2003). Turner Syndrome. www.med.umich.edu/1libr/yourchild/turners.htm Branca, B et al. (2003). Chromosomal abnormalites. Diseases(Vol. 2, pp. 69- 70) : Scientific Publishing Bushstein, Fred. (2002). Turner Syndrome. In MacGill’s Medical Guide (Vol. 3, pp.2330) Pasadena, California: Salem Press. Engel, J. (2005). The Complete Canadian Health Guide. Toronto: Key Porter Books. Larson, D. (1996). Mayo Clinic Family Health Book. New York: William Morrow and Company Rieser, A. Patricia. (Sept. 18, 2004). Turner Syndrome. www.hgfound.org/turner.html.

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