Klinefelter’s Syndrome - smpanthers.orgsmpanthers.org/fshafai/files/klinefelter's.pdf ·...
Transcript of Klinefelter’s Syndrome - smpanthers.orgsmpanthers.org/fshafai/files/klinefelter's.pdf ·...
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Klinefelter’s Syndrome
Shelby LindsayArianne FloresRandy Khalil
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Genetic Counselor
Treatment of Klinefelter Syndrome キ Replacement of the Hormone Testosterone
o As a preteen (about 11 or 12), (if testosterone level islow) the boy will be given a man-made form of testosteroneon a regular basis as an injection, skin patch, or a gel.
o Increase strength o Improve appearance of muscles o Body hair growth o Increase in energy and sex drive o Improved concentration o Improved mood and self esteem
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Genetic Counselor Cont’d キ Educational Assistance and Speech Therapy
o Only in those children with noticed speech delays and learningdifficulties
キ Regular Medical Checkups o Required to monitor other conditions that may develop
ァ Autoimmune diseases, behavioral problems,psychiatric disorders
キ Extreme Measures: Plastic Surgery o For males with large breasts o Gynecomastia male breast reduction ⇒ Reduce the size of the
breasts
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Genetic Counselor Cont’d キ Support Your Son!
o Educate yourself and your child about KlinefelterSyndrome and give him emotional support
o Work with his teachers and encourage him to besocial while also letting him be somewhatindependent
o Go to therapy if you notice signs of depression orother psychological problems in your child.
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Disorder Specialist
Klinefelter’s syndrome is when there is an extra XChromosome.
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Signs and Symptoms
Symptoms vary on how many XXY cells theman has, and how much testosterone ispresent in the body.
It can affect physical, language, and socialdevelopment.
As a baby, there may be reduced strengthand weak muscles present.
There is less muscle control and th malesusually tend to be taller that normal, by agefour.
They have larger breasts
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Signs and Symptoms Cont’d
PubertyThe XXY male may make less testosterone, and
have wide hips, less muscular body, sparese bodyhair, and more feminine features.
They have larger breasts and pear-shaped body.Adult
More likely than other men the get healthproblems such as: Breast cancer, vein diseases,and tooth decay.
They make little to no sperm.To detect klinefelt’s early on there are
screenings that can be done.AR-qPCR: detects extra X chromosomes.
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