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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

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Turner Syndrome

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  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.

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