Chromosome Abnormalities
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- 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?
- Karyotype
- 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?
- Dolichocephaly
- Skeletal anomalies associated with Marfan Syndrome?
- Arachnodactyly
- 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).