Klinefelter Syndrome Flashcards Preview

Pathophysiology > Klinefelter Syndrome > Flashcards

Flashcards in Klinefelter Syndrome Deck (13)
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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

2
Q

Klinefelters syndrome is characterized by

A

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

3
Q

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

A

yes

4
Q

Is the condition easy to detect at birth

A

no

5
Q

Is Klinefelters disease common

A

it is the most common disease of sex chromosomes

6
Q

What hormone is less produced

A

testosterone

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

8
Q

What type of hormone might increase in someone with Klinefelters

A

hypothalamic gonadotrophic hormones

9
Q

How is it usually treated

A

androgen and testosterone tharapy

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

11
Q

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

A

congenital hypogonadism

12
Q

How common is Klines

A

1 in 500-1000

13
Q

How is it diagnosed

A

blood and urine samples for abnormal levels of hormones

chromosome analysis

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