1 / 14

Turner Syndrome

Turner Syndrome. A Genetic Disorder. Turner Syndrome. Named after Henry Turner in 1938 5 Phenotypically female 3 Alternatively known as: Bonnevie-Ullrich Syndrome, monosomy X, TS, Turner’s Syndrome, Ullrich-Turner Syndrome, and 45,X 8 Gonadal Dysgenesis 6

rivka
Télécharger la présentation

Turner Syndrome

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript


  1. Turner Syndrome A Genetic Disorder

  2. Turner Syndrome • Named after Henry Turner in 1938 5 • Phenotypically female 3 • Alternatively known as: • Bonnevie-Ullrich Syndrome, monosomy X, TS, Turner’s Syndrome, Ullrich-Turner Syndrome, and 45,X 8 • Gonadal Dysgenesis 6 • X chromosome is missing or defective 7 • Most common sex chromosome abnormality in females 6 • 1/2500 affected 6 • 10% of spontaneous aborted babies would be born with TS 9 • ½ are monosomy X 9 • Most others are mosaic of (45,X) and (46,XX) 9 • 35% are mosiacs 7 • Only viable monosomy in humans 3

  3. Causes • Error in cell division of parent’s gametes 7 • Non-disjunction in sex chromosome 8 • Loss of genetic material may occur in developing baby 1 • Short stature caused by SHOX gene on X 4 • Gene contributes to long bone growth 4 • Phenotype and spontaneous abortion of XO babies are caused by haploinsufficieny 9

  4. http://www.biology.iupui.edu/biocourses/N100/2K2humancsomaldisorders.htmlhttp://www.biology.iupui.edu/biocourses/N100/2K2humancsomaldisorders.html

  5. Symptoms and Effects http://web.ebscohost.com/ehost/detail?vid=1&hid=106&sid=2bcaff32-19b4-473d-aaa2-c08cac2502ac%40sessionmgr108 • Visible abnormalities include: • Short stature, webbed neck, out turned elbows, undeveloped breasts, abnormal palate shape 1 • Puffy hands and feet at birth, prominent ears, low hairline at back of neck, soft fingernails that turn up at ends, no pubic hair 6 • Shield chest and widely spaced nipples 5 • Have coloured spots on skin, average height is 4’8” 4 http://cas.bellarmine.edu/tietjen/HumanBioogy/Finished%20Images/gen20a.gif http://images.webmd.com/images/hw/media68/medical/hw/nd551248.jpg http://www.mdconsult.com/das/pdxmd/media/1206/6120627/large.jpg

  6. Effects on Puberty and Reproduction • Non functioning ovaries 4 • Streak gonads 5 • No healthy oocytes 4 • Unable to produce estrogen 6 • Frequent infertility, lack of menstruation 6 • May menstruate at a normal age and stop in late teens or early twenties 4 • Spontaneous pregnancy may occur 4 • Usually in mosaicism 9

  7. Cardiovascular Problems • The only reason for increased mortality 6 • 5 – 10 % of TS patients have coarctation of aorta 4 • Severe constriction of the artery 4 • High blood pressure and stroke 7 • 15% of adults with Turner Syndrome have bicuspid aortic valves 4 • Two valves instead of three 4

  8. Effects on Kidneys • 1/3 of Turner Syndrome patients have kidney problems 4 • Could be a contributor to high blood pressure 4 • Horse shoe kidney 4 • One bean shaped instead of two 4 • Abnormal urine collections system 4 • Abnormal blood supply 4

  9. Bone Problems • Thin, weak bones 4 • Fractures in childhood and osteoporosis in adulthood 6 • Spine curve 4 • Scoliosis 9 • Chronic knee pain and dislocation of patella 9 • Problems due to lack of circulating estrogen 4 http://cenkchiro.com/img/imagery/scoliosis.jpg

  10. Other Problems • Higher rate of Type II Diabetes 4 • 1/3 have thyroid problems 4 • Usually hyperthyroidism 4 • Low energy, dry skin, cold intolerance, poor growth 4 • Frequent ear infections 1 • Can have hearing loss 5 • Normal intelligence 7 • Verbal IQ is usually higher than non verbal IQ 7 • Difficulty with visual-spatial coordination 4

  11. Treatments • Repeated injections of synthetic HGH during childhood 2 • Estrogen and progesterone therapy, able to develop secondary sexual characteristics and menstruate 4 • Protect from osteoporosis until at least normal menopausal age 4 • Can become pregnant by in-vitro fertilization 6 • Use donated egg 4 • Surgery to correct cardiovascular and kidney problems 4 • Take thyroid hormone supplements to correct hyperthyroidism 4 • Careful monitoring, diet, exercise and medication to deal with diabetes 4

  12. Diagnosis • Presumptive diagnosis through ultrasound • Confirmed through chromosome analysis • Can be diagnosed prenatally through amniocentesis and chromosome analysis 9 • Using blood test afterwards 9 http://www.mydr.com.au/content/images/categories/Babies/amniocentesis.gif

  13. Future Outlook • In-vitro fertilization allows for pregnancy 6 • No shortened life expectancy 7 • Even cosmetic surgery can help TS patients 7 • Most have normal intelligence 3 • Research in endocrinology, genetics, gynecology and obstetrics 6

  14. Works Cited 1 Brayden, R. (2006). Turner Syndrome. Clinical Reference Systems. Retrieved April, 11, 2008 from EBSCOhost database. 2 Brunch, Bryan. (2003). Short Stature. In Diseases (vol. 7, p. 84). Danbury: Grolier Educational. 3 Campbell, N., & Reece, J. (2002). Biology (6th ed.). New York: Benjamin Cummings 4 Clinical Features of Turner Syndrome. (2004). Retrieved April 13, 2008 from http://turners.nichd.nih.gov/ClinFrIntro.html. 5 Haskins, A. O., Schaefer, B. G. (1998). Turner Syndrome. Ear Nose and Throat Journal. Retrieved April 12, 2008, from EBSCOhost database. 6 Irons-Georges, Tracy. (2002). Turner Syndrome. In Magill’s Medical Guide (Vol. 3, p. 2330). Hackensack: Salem Press Inc. 7 Narins, Brigham. (2005). Turner Syndrome. In The Gale Encyclopedia of Genetic Disorders (vol. 2, pp. 1297 – 1300). New York: Thomson Gale. 8 Turner Syndrome. (2005). Retrieved April 13, 2008 from http://ghr.nlm.nih.gov/condition=turnersyndrome. 9 Turner’s Syndrome. (2004) Retrieved April 13, 2008 from http://www.vivo.colostate.edu/hbooks/genetics/medgen/chromo_eg/turners.html.

More Related