Turner Syndrome Erica Simi 3/26/10.

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Presentation transcript:

Turner Syndrome Erica Simi 3/26/10

Turner Syndrome Described in 1938 by Dr. Henry Turner (endocrinologist) Noted common physical features in female patients Resulted that it is a chromosomal abnormality

Turner Syndrome A genetic condition when a female does not have the usual pair of two X chromosomes. It is a chromosomal condition that affects the development in females. It cannot be passed to future generations.

Causes Cells are missing all or part of an X chromosome Female only has one X chromosome (monosomy X), or two X chromosomes but one is structurally altered (mosaicism) SHOX gene Occurs in about 1 out of 2,000 births

Phenotypic Effects Webbed neck/wide neck Swollen hands/feet Incomplete or absent development at puberty Broad, flat chest Dry eyes Drooping eyelids Infertility (no ovulation) Short height Low hairline Elbow deformity Skeletal abnormalities

Diagnosis & Tests Any stage of life Can be diagnosed before birth (chromosome analysis) Phyiscal exam with signs of underdevelopment Blood hormone levels Echocardiogram Karyotyping MRI of the chest Ultrasound of reproductive organs Pelvic exam

Treatment Growth hormone Estrogen replacement therapy Donor egg

Works Cited "Turner Syndrome." Genetics Home Reference. Web. 25 Mar. 2010. <http://ghr.nlm.nih.gov/condition=turnersyndrome>. "Turner Syndrome." Google Health. Web. 25 Mar. 2010. <https://health.google.com/health/ref/Turner+syndrome>. "Turner Syndrome." Kids Health. Web. 25 Mar. 2010. <http://kidshealth.org/parent/medical/sexual/turner.html#>. "Turner Syndrome." Learn.Genetics. Web. 25 Mar. 2010. <http://learn.genetics.utah.edu/content/disorders/whataregd/turner/>. Turner Syndrome. Photograph. By Lizzy Rosenblatt.