Turner Syndrome
What is Turner’s syndrome?
• A genetic disorder which only affects and occurs in females
• It is a result of only one X chromosome present in the gamete (monosomy X )
• T.S can also occur if one of the sex chromosomes is partly missing or rearranged
• This missing chromosome is responsible for the developmental affects
• There is an extremely small chance of the fetus actually surviving
How is a person diagnosed?
• A person can be diagnosed by taking a sample of blood, amniotic fluid or even other tissues
• This is done to examine genetic material with a karyotype, which is used to visually diagnose Turner’s syndrome
What are the symptoms?
• The most common sign is a short structure (average height of 4’8 )
• Another symptom is uncompleted sexual development (don’t reach puberty) which results to infertility and ovarian failure, therefore the patients can’t have kids
• Additional signs are hearing loss, obesity, speech problems, dental abnormalities and webbed neck
History of disorder
• Turner’s syndrome history began in 1938 when Henry Turner (discoverer, hence “Turner’s” syndrome) described several patients he tried to cure, that had dwarfism and a deficiency of sexual development
• Since 1938, there has been numerous hours of research done on Turner’s syndrome that has led to the knowledge we have today.
How is the gene responsible for the symptoms?
• Researchers are not completely sure which genes in the sex chromosome is responsible, however the gene type SHOX is not present in the affected X chromosome
• SHOX is the gene which is vital for bone development and growth and it is only found in the sex chromosome
• Since, two genes are usually present (one in each sex chromosome) this explains some of the symptoms because the normal amount isn’t present.
Treatment
• There is no cure for Turner’s syndrome as a whole however many of the symptoms can be individually treated
• Example;
Speech problems = speech therapist
• A genetic disorder which only affects and occurs in females
• It is a result of only one X chromosome present in the gamete (monosomy X )
• T.S can also occur if one of the sex chromosomes is partly missing or rearranged
• This missing chromosome is responsible for the developmental affects
• There is an extremely small chance of the fetus actually surviving
How is a person diagnosed?
• A person can be diagnosed by taking a sample of blood, amniotic fluid or even other tissues
• This is done to examine genetic material with a karyotype, which is used to visually diagnose Turner’s syndrome
What are the symptoms?
• The most common sign is a short structure (average height of 4’8 )
• Another symptom is uncompleted sexual development (don’t reach puberty) which results to infertility and ovarian failure, therefore the patients can’t have kids
• Additional signs are hearing loss, obesity, speech problems, dental abnormalities and webbed neck
History of disorder
• Turner’s syndrome history began in 1938 when Henry Turner (discoverer, hence “Turner’s” syndrome) described several patients he tried to cure, that had dwarfism and a deficiency of sexual development
• Since 1938, there has been numerous hours of research done on Turner’s syndrome that has led to the knowledge we have today.
How is the gene responsible for the symptoms?
• Researchers are not completely sure which genes in the sex chromosome is responsible, however the gene type SHOX is not present in the affected X chromosome
• SHOX is the gene which is vital for bone development and growth and it is only found in the sex chromosome
• Since, two genes are usually present (one in each sex chromosome) this explains some of the symptoms because the normal amount isn’t present.
Treatment
• There is no cure for Turner’s syndrome as a whole however many of the symptoms can be individually treated
• Example;
Speech problems = speech therapist