Relatively common disorder caused by the loss of genetic material from one of the sex chromosomes Affects only females Clinical features Short stature 143145cm tall Loss of ovarian function ID: 1015826
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![[Received May 12, 2008; Accepted October 08, 2008]](https://thumbs.docslides.com/200929/received-may-12-2008-accepted-october-08-2008.jpg)
1. TURNER SYNDROME
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. Clinical featuresShort stature (143-145cm tall)Loss of ovarian functionHormone imbalances( thyroid, diabetes) Stress and emotional deprivationDiseases affecting the kidneys, heart, lungs or intestinesBone diseases Learning problems( esp. in maths)
4. Genetic causesX chromosome monosomyX chromosome mosaicismX chromosome defects
5. DiagnosisPossible during infancy or early childhood A physical exam is the first indicationThe best test is a karyotype, ie a laboratory test presenting the chromosomes
6. TreatmentGrowth hormone therapyEstrogen replacement therapyCardiac surgery (when needed)In vitro fertilization (to achieve pregnancy)Psychological help
7. Is Turner Syndrome “hereditary”?Although it is a genetic disorder, it is not usually hereditaryThere are no known environmental causes of the syndromeWomen with Turner Syndrome are usually infertile