Heather Marra, Hailey Mills, Jackie Evers, and Kristen Swerzenski are proud to present… Turner’s Syndrome An Original Presentation from Mrs. Hopper’s 3rd Period Class

What is Turner’s Syndrome? Also referred to as Monosomy X An abnormal genetic condition resulting from a defect on or absence of the second sex chromosome

What’s the defect? Female is missing an X-chromosome

Cause The female is born without the second X chromosome "45X” meaning that an individual has 44 autosomes and a single X chromosome Multiple blood cells are required to be tested because some cells may carry an X monosomy while others may not

KARYOTYPE

How does it happen? Usually caused by non-disjunction Pair of sex chromosomes does not separate during formation of either egg or sperm When abnormal egg unites with normal sperm to form embryo… May end up missing that sex chromosome Be X instead of XX

Turner’s syndrome baby

Video about Turner’s Syndrome

Symptoms Shorter than average/slow growth rate No growth spurts during puberty Non-functioning ovaries No production of estrogen or progesterone Infertility Middle Ear infections leading to eventual loss of hearing Problems with math, memory skills, and fine-finger movements Discolored spots on skin

Symptoms Cont. Wide/webbed neck Low hairline Broad chest/widely spaced nipples Arms turned out at elbows Heart murmur due to narrowing of aorta High blood pressure Minor vision issues Scoliosis Osteoporosis (thinning of bones) due to lack of estrogen

Symptoms Visual

Physical Symptoms Short stature (Usually no taller than 4’8”) Obese weight (due to an underactive thyroid) Drooping eyelids Problems with breast development Short fingers and toes Extra skin on the neck (webbed neck) Swelling of the hands and feet Low set ears Soft nails that turn upward at the ends Irregular rotation of wrist and elbow joints

Internal Symptoms Loss of ovarian functions (infertility) Heart defects Kidney problems Visual impairments Ear infections and hearing loss High blood pressure Weak bones

Mental Symptoms Range of intellectual development usually normal However, they seem to have difficulty with specific skills Learning disabilities Especially in math Behavioral problems Problems with concentrating and remembering

Diagnosis Women can be amniotic fluid tested while pregnant If the test returns back to be positive, genetic counseling is recommended A simple blood test karyotype can determine the diagnosis Usually diagnosed during infancy but can be diagnosed later in life

Statistics It currently affects 60,000 women in the United States For unknown reasons 98% of Turner Syndrome-afflicted fetuses spontaneously abort, thus making up 10% of all miscarriages Occurs in about 1/2,000 live female births

Effect on Life Women with Turner’s Syndrome lead typical lives Have normal family relations Often bullied when young due to appearance Turner’s Syndrome Support Groups

Treatment/Cure No cure for Turner’s Syndrome Are certain treatments to help with the symptoms Growth hormone therapy Estrogen/progesterone replacement Close heart monitoring for heart problems

Remember… We are all people and we are all different in our own ways. Just because some of us may look or act different in your eyes does not give you the excuse to make fun of them. RESPECT EVERYONE FOR THEIR DIFFERENCES

Works cited "Turner Syndrome Causes, Symptoms, Diagnosis, and Treatment on MedicineNet.com." Web. 10 Apr. 2011. <http://www.medicinenet.com/turner_syndrome/article.htm>. "YouTube - Turner's Syndrome and Me." YouTube - Broadcast Yourself. Web. 10 Apr. 2011. <http://www.youtube.com/watch?v=FPPbNwvEYg8>. "MGA2-11-14_Turner." Memorial University. Web. 10 Apr. 2011. <http://www.mun.ca/biology/scarr/MGA2-11-14_Turner.html>. "Turner Syndrome." KidsHealth - the Web's Most Visited Site about Children's Health. Web. 10 Apr. 2011. <http://kidshealth.org/teen/diseases_conditions/sexual_health/turner.html>. Turner Syndrome Society of the US - Welcome. Web. 10 Apr. 2011. <http://www.turnersyndrome.org/>.