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.

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2
Q

What is the treatment for Turner syndrome?

A

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

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3
Q

Does Klinefelter affect males or females?

A

Males

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4
Q

Characteristics for Turner syndrome (11).

A
  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
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5
Q

When is Turner syndrome usually diagnosed?

A

Wide range of age for diagnosis.

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6
Q

Characteristics of Klinefelter (3).

A
  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).
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7
Q

What is the abnormality with Klinefelter?

A

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

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