Klinefelter Syndrome Flashcards

1
Q

What is the cause of Klinefelters syndrome

A

An extra X chromosome on the XY of males due to nondisjunction during meiotic division in one of the parents

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2
Q

Klinefelters syndrome is characterized by

A

enlarged breast
sparse facial and body hair
small testes
inability to produce sperm

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3
Q

Is the male phenotype still retained if their are multiple extra X chromosomes

A

yes

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4
Q

Is the condition easy to detect at birth

A

no

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5
Q

Is Klinefelters disease common

A

it is the most common disease of sex chromosomes

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6
Q

What hormone is less produced

A

testosterone

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7
Q

What are some complication that can happen later in life due to lower levels of testosterone

A

abnormal body proportions, longer legs than torso
abnormal fat distribution
retainment of feminine voice pitch
reading and writing learning disabillities
infertility due to low sperm count

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8
Q

What type of hormone might increase in someone with Klinefelters

A

hypothalamic gonadotrophic hormones

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9
Q

How is it usually treated

A

androgen and testosterone tharapy

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10
Q

Due to breast inlargements what is recommended to males with this disease

A

self-examinations because of their increased risk of breast cancer

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11
Q

What do males with klinefelters have that causes the low testosterone and high hypo gonad hormones

A

congenital hypogonadism

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12
Q

How common is Klines

A

1 in 500-1000

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13
Q

How is it diagnosed

A

blood and urine samples for abnormal levels of hormones

chromosome analysis

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