Turner Syndrome

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Turner Syndrome
Erica Simi 3/26/10
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Turner Syndrome

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

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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.

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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

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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

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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

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Treatment

• Growth hormone
• Estrogen replacement therapy
• Donor egg

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• Works
  Cited
• "Turner Syndrome." Genetics Home Reference. Web.
  25 Mar. 2010. lthttp//ghr.nlm.nih.gov/conditiontu
  rnersyndromegt.
• "Turner Syndrome." Google Health. Web. 25 Mar.
  2010. lthttps//health.google.com/health/ref/Turner
  syndromegt.
• "Turner Syndrome." Kids Health. Web. 25 Mar.
  2010. lthttp//kidshealth.org/parent/medical/sexual
  /turner.htmlgt.
• "Turner Syndrome." Learn.Genetics. Web. 25 Mar.
  2010. lthttp//learn.genetics.utah.edu/content/diso
  rders/whataregd/turner/gt.
• Turner Syndrome. Photograph. By Lizzy Rosenblatt.