Klinefelter syndrome

Question 1

What is Klinefelter syndrome?

Answer 1

47,XXY is a syndrome where a male has an additional copy of the X chromosome

Question 2

What are the signs of Klinefelter syndrome?

Answer 2

Above-average height
Small, poor functioning testicles
Poor coordination
Less body hair
Breast growth
Decreased libido
Potential learning disabilities 
Infertility

Question 3

What percentage of Klinefelter’s syndrome results in miscarriage?

Answer 3

60%

Question 4

What are common hormone values for someone with Klinefelters?

Answer 4

Because of (primary) hypogonadism, individuals often have a low serum testosterone level, but high serum follicle-stimulating hormone and luteinizing hormone levels, hypergonadotropic hypogonadism

Question 5

What are the risks of Klinefelter syndrome?

Answer 5

Autoimmune diseaese
Breast cancer
Venous thromboembolic disease
Osteoporosis

Question 6

How does the risk for Klinefelter increase with age?

Answer 6

Women at 40 years have a four times higher risk for a child with Klinefelter syndrome than women aged 24 years

Question 7

What can meiotic defects can cause Kleinefelter?

Answer 7

Nondisjunction event of one X chromosome from a Y chromosome during meiosis I in the male

Nondisjunction event of one X chromosome during meiosis II in the female

Question 8

How would you manage Kleinfelter?

Answer 8

Potential testosterone treatment
Surgical breast removal
Infertility treatment

Question 9

What is the prognosis for someone with Kleinfelter?

Answer 9

The lifespan of individuals with Klinefelter syndrome appears to be reduced by around 2.1 years compared to the general male population