TURNER SYNDROME - PowerPoint PPT Presentation

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TURNER SYNDROME

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  1. TURNER SYNDROME 1)Daikidou Dimitra – Vasileia 2)Halkiadaki Evangelia

  2. What is Turner Syndrome? • Relatively common disorder caused by the loss of genetic material from one of the sex chromosomes. • Affects only females

  3. Symptoms

  4. Clinical features • Short stature (143-145cm tall) • Loss of ovarian function • Hormone imbalances( thyroid, diabetes) • Stress and emotional deprivation • Diseases affecting the kidneys, heart, lungs or intestines • Bone diseases • Learning problems( esp. in maths)

  5. Genetic causes • X chromosome monosomy • X chromosome mosaicism • X chromosome defects

  6. Diagnosis • Possible during infancy or early childhood • A physical exam is the first indication • The best test is a karyotype, ie a laboratory test presenting the chromosomes

  7. Treatment • Growth hormone therapy • Estrogen replacement therapy • Cardiac surgery (when needed) • In vitro fertilization (to achieve pregnancy) • Psychological help

  8. Is Turner Syndrome “hereditary”? • Although it is a genetic disorder, it is not usually hereditary • There are no known environmental causes of the syndrome • Women with Turner Syndrome are usually infertile