Turner’ s Syndrome

By Ali Danhoff

What is Turner’s Syndrome?

Dr. Henry Turner, an endocrinologist, discovered this syndrome in 1938 when observing female patients.

Occurs when a female is missing all or some of her X chromosome.

Turner’s syndrome is not inherited; it is a mutation dealing with the X chromosome.

Affects 1 in every 2,500 girls.

http://dockgenetics.wikispaces.com/Turner+Syndrome-+Andria+Walsh

Diagnosing Turner’s Syndrome

A karyotype is a blood test that looks at the chromosomes and determines whether a female has Turner’s Syndrome.

A positive test will show only 45 chromosomes, while a female who is negative for Turner’s Syndrome has 44 autosomes and 2 sex cells.

At times a female with Turner’s Syndrome may have 44 autosomes and 2 sex cells, but one of her X chromosomes may be missing a part.

Diagnosing Turner’s Syndrome (pg2)

An ultrasound can also determine if a female has Turner’s Syndrome because it examines the fetus.

http://download.imaging.consult.com/ic/images/S1933033207703932/gr1-midi.jpg

Signs of Turner’s Syndrome

Lack of height (average of 4’7)

Extra skin around neck (aka webneck)

Low-set ears Droopy eyelids/lazy

eye No menstrual cycle Scoliosis Hearing problems http://eobiology.wikispaces.com/Turner+Syndrome+C

Patients with Turner’s Syndrome

BABY WITH TURNER’S SYNDROME

ADULT WITH TURNER’S SYNDROME

http://eobiology.wikispaces.com/Turner+Syndrome+C

http://www.saida.org.za/societies/turner.htm

www.saida.org.za/societies/turner.htm www.saida.org.za/societies/turner.htm www.saida.org.za/societies/turner.htm www.saida.org.za/societies/turner.htm

Symptom’s of Turner’s Syndrome

Learning difficulties, especially in math

Problems with spatial skills

Self-esteem issues dealing with their bodies

Treatments for Turner’s Syndrome

HRT (Hormone replacement therapy) injects estrogen for a female teenager to go through puberty. The downside for hormone injections is they may cause breast cancer, heart disease, and stroke.

Somatropin is a prescription drug to help grow taller and gain muscle. Side effects like nausea, hair loss, weakness, swelling of many different body parts, and changes with vision.

https://www.united-pharmacy.com/?m=show_product&global_product_id=13

References

Saunders. (2007). Kliegman: Nelson Textbook of Pediatrics, 18th ed. Maryland heights: An Imprint of Elsevier .

Syndrome, T. (n.d.). Turner Syndrome Society of the US. Turner Syndrome Society of the US. Retrieved May 23, 2010, from

Treatment Options for Turner Syndrome. (n.d.). Turner Syndrome: Symptoms, Treatment & Complications. Retrieved May 23, 2010, from

Turner Syndrome . (n.d.). KidsHealth - the Web's most visited site about children's health. Retrieved May 23, 2010, from

Turner Syndrome Treatment : Treatment Search Results on Healthline.com. (n.d.). Health Search Engine and Free Medical Information - Healthline. Retrieved May 23, 2010, from

Turner syndrome - Genetics Home Reference. (n.d.). Genetics Home Reference - Your guide to understanding genetic conditions. Retrieved May 23, 2010, from