Kayla's+Page

Kayla Leopard Beatty Biology Honors First Block

 __Turner Syndrome__

__Introduction: __ Turner Syndrome or Ullrich Turner Syndrome, also known as Gonadal Dysgenesis. Turner Syndrome, a medical disorder that affects about 1 in every 2,500 girls, is a genetic condition in which a female does not have the usual pair of two X chromosomes. Girls who have this condition usually are shorter than average and infertile due to early loss of ovarian function.

__Mode of Inheritance:__ Most girls are born with two X chromosomes, girls with Turner Syndrome are born with only one X chromosome or they are missing part of the one chromosome. The affects of this condition can vary widely among girls with Turner Syndrome. It all depends on how many of the body's cells are affected by the changed to the X chromosome.

__Clinical Description of the Disorder:__ In most cases, untreated girls with this disorder are short in stature(the average final adult height is 4 feet 7 inches) and may have a variety of associated physical features and medical problems such as swelling, broad chest, low hairline, low-set ears, and webbed necks. Girls with Turner Syndrome typically don't have proper ovarian development which affects sexual development and the ability to have children. Nearly all girls with Turner Syndrome will be infertile, or unable to become pregnant on their own. Other health problems that may occur with Turner Syndrome include kidney and heart abnormalities, high blood pressure, obesity, diabetes mellitus, cataracts, thyroid problems, arthritis, vision and hearing problems, and many autoimmune diseases. Girls with Turner Syndrome usually have normal intelligence, but may experience learning difficulties, particularly in mathematics. Many have a difficult time with tasks that require skills such as map reading or visual organization.

__Treatment:__ Because Turner Syndrome is a condition that is caused by a chromosomal abnormality, there's no specific cure. However scientists have developed a number of treatments that can help correct some of the problems associated with the condition, such as growth problems and researchers are constantly looking into new forms of treatment. Growth hormone treatment can improve growth and influence a girl's final adult height. In many cases if the treatment is started early enough in childhood many of the girl's can reach a final height in the average range. Another treatment for Turner Syndrome is estrogen replacement, which helps girl's develop the physical changes of puberty, including breast development and menstrual periods. This treatment is often started when girl's reach the ages of 12 to 13. Also a technique called in vitro fertilization can make it possible for some women affected with Turner Syndrome to become pregnant. With proper supportive care, the women can carry the pregnancy to term and deliver a baby through the normal birth process.

__Detection:__ Girls with Turner Syndrome are usually diagnosed either at birth or around the time they might be expected to enter puberty. If a baby girl has shown signs of Turner Syndrome, a doctor will order a special blood test called a karyotype. The test counts the number of chromosomes and can identify any that are abnormally shaped or have missing pieces. Results that indicate Turner Syndrome will reveal 45 chromosomes instead of the normal 44 autosomes and 2 X chromosomes typically found in females. In some cases, there are no recognizable signs that a girl has the condition until she reaches the age at which she would normally go through puberty.

 Karyotype of Turner Syndrome



Girl with Turner Syndrome before and after her operation for neck webbing which is a characteristic of the syndrome. 

__Sources:__

http://kidshealth.org/teen/diseases_conditions/sexual_health/turner.html http://kidshealth.org/parent/medical/sexual/turner.html http://en.wikipedia.org/wiki/Turner_syndrome http://www.nlm.nih.gov/medlineplus/turnersyndrome.html http://ghr.nlm.nih.gov/condition=turnersyndrome http://www.medicinenet.com/turner_syndrome/article.htm