Klinefelter Syndrome Flashcards

1
Q

Are males or females affected by Klinefelter Syndrome?

A

males

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2
Q

What does the genetic analysis of Klinefelter syndrome show?

A

Basic abnormality is the presence of an extra X chromosome.
Males with Klinefelter syndrome have 47 chromosomes.
Genetic analysis shows XXY instead of XY.

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3
Q

Which syndrome (Klinefelter or Turner) is the most common of all sex chromosome abnormalities?

A

Klinefelter syndrome

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4
Q

When is Klinefelter syndrome usually diagnosed?

A

Often not diagnosed until puberty but sometimes not diagnosed until men are not able to have children

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5
Q

Is there reduced secondary sex characteristics?

A

YES

***microorchidism associated with otherwise normal genitalia, lack of sperm and sterility often seen.

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6
Q

What are some common findings with Klinefelter syndrome?

A

normal to borderline IQ
diminished facial hair
lack of libido

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