Klinefelter’s Syndrome

Shelby LindsayArianne FloresRandy Khalil

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

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

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.

Disorder Specialist

Klinefelter’s syndrome is when there is an extra XChromosome.

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

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.

Randy Khalil Portia de Rossi

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25% will have lobes and widows peak25% will have lobes and no widow’s peak25% will have no lobes and a widow’s peak25% will have no lobes and no widow’s peak