8: Klinefelter and Turner Syndromes

Question 1

When is Klinefelter often diagnosed.

Answer 1

Puberty. Often not diagnosed until men are unable to have children.

Question 2

What is the treatment for Turner syndrome?

Answer 2

Hormone therapy. Estrogen replacement therapy can begin at age 12.

Question 3

Does Klinefelter affect males or females?

Answer 3

Males

Question 4

Characteristics for Turner syndrome (11).

Answer 4

1. Webbed neck
2. Shield chest
3. Lymphadema of hands/feet
4. Heart defect
5. Normal IQ
6. Short stature
7. Fertility issues (early loss of ovarian function, no puberty, infertile)
8. Scoliosis
9. Kyphosis
10. Osteopenia
11. Osteoporosis

Question 5

When is Turner syndrome usually diagnosed?

Answer 5

Wide range of age for diagnosis.

Question 6

Characteristics of Klinefelter (3).

Answer 6

1. Absence/reduced secondary sex characteristics (facial hair, libido).
2. Microorchidism (otherwise normal genitalia, lack of sperm, and sterility).
3. Normal to borderline IQ (IQ diminishes as number of sex chromosomes increases).

Question 7

What is the abnormality with Klinefelter?

Answer 7

Extra X (XXY) in males. Rare cases have 48 or 49 chromosomes (XXXY or XXXXY).