Review Questions

1. A 37-year-old woman gives birth to an 8-pound baby boy. She is concerned that he looks "different" horn the other newborns in the hospital nursery. He has a broad neck, prominent epicanthal folds, a prominent tongue, "stubby^ hands and feet, and poor muscle tone. There is a single line that extends across the entire palm. The mother asks if there are going to be any future complications due to this disease or if he will just look a bit "different." He will most likely have which of the following disorders by age 40?

A. Acute myelogenous leukemia

B. Alzheimer disease

C. Bilateral acoustic neuromas

D. Coarctation of the aorta

E. Dissecting aortic aneurysm

2. A 16-year-old girl is brought to the physician by her modier because she has not yet begun to menstruate. She is concerned because all of her other friends "got their periods years ago." She is not sexually active and denies excessive dieting or exercise. Physical examination reveals normal adult-type breasts, a sparse amount of axillary and pubic hair, and a blind-ending vagina. A sonogram reveals that the uterus and ovaries are absent. She has male levels of testosterone. Which of the following is the most likely cause of her condition?

A. Androgen-producingtumor

B. Congenital adrenal hyperplasia

C. Maternal intake of androgens

D. Meiotic nondisjunction

E. Mutation of the androgen receptor

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