8: Klinefelter and Turner Syndromes Flashcards
1
Q
When is Klinefelter often diagnosed.
A
Puberty. Often not diagnosed until men are unable to have children.
2
Q
What is the treatment for Turner syndrome?
A
Hormone therapy. Estrogen replacement therapy can begin at age 12.
3
Q
Does Klinefelter affect males or females?
A
Males
4
Q
Characteristics for Turner syndrome (11).
A
- Webbed neck
- Shield chest
- Lymphadema of hands/feet
- Heart defect
- Normal IQ
- Short stature
- Fertility issues (early loss of ovarian function, no puberty, infertile)
- Scoliosis
- Kyphosis
- Osteopenia
- Osteoporosis
5
Q
When is Turner syndrome usually diagnosed?
A
Wide range of age for diagnosis.
6
Q
Characteristics of Klinefelter (3).
A
- Absence/reduced secondary sex characteristics (facial hair, libido).
- Microorchidism (otherwise normal genitalia, lack of sperm, and sterility).
- Normal to borderline IQ (IQ diminishes as number of sex chromosomes increases).
7
Q
What is the abnormality with Klinefelter?
A
Extra X (XXY) in males. Rare cases have 48 or 49 chromosomes (XXXY or XXXXY).