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14 Cards in this Set

  • Front
  • Back
What is the most common sex chromosome abnormality?
Klinefelter Syndrome
Incidence of Klinefelter Syndrome?
1 in 600 male births
What is the leading cause of male infertility?
Klinefelter Syndrome
Karyotype associated with Klinefelter Syndrome?
47,XXY most often
Describe growth in boys with Klinefelter Syndrome
normal ht, wt, hc but height velocity increases as approaching school age. Usually 80th percentile for height or more and have relatively long arms and legs.
What developmental difficulties do boys with Klinefelter Syndrome have?
May have mildly delayed motor and language development, mildly low muscle tone, difficulty with verbal and reading skills
Typical personality traits of boys with Klinefelter Syndrome?
shy, sedentary, often suffer from poor self-esteem. They frequently display immature behaviors compared with their same-age peers.
What happens to boys who have KS at puberty?
the testes fail to enlarge as expected. Approximately 15% develop gynecomastia, and there may be reduced facial, axillary, and pubic hair compared with the average.
diagnosis of Klinefeltr’s syndrome?
For What malignancies are boys with at increased risk?
About 3% risk of breast cancer in adulthood; 1% risk of primary mediastinal germ cell tumors
Head shape in Marfan syndrome?
Skeletal anomalies associated with Marfan Syndrome?
What evaluations are necessary when suspecting Marfan syndrome?
echocardiography and ophthalmology evaluations
management of individuals who have KS?
evaluation for testosterone deficiency; Baseline testosterone, follicle-stimulating hormone, and leuteinizing hormone levels should be measured at 12 to 13 years of age or when the diagnosis initially is made (if later).