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TURNER SYNDROME

TURNER SYNDROME. 1)Daikidou Dimitra – Vasileia 2)Halkiadaki Evangelia. What is Turner Syndrome?. Relatively common disorder caused by the loss of genetic material from one of the sex chromosomes. Affects only females. Symptoms. Clinical features. Short stature (143-145cm tall)

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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

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