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9200 Pathology

A 20-year-old woman with Hirschsprung disease presents with acute leg pain. The patient had a glioma resected 3 years ago. An X-ray film of the leg reveals a fracture of the left tibia. Laboratory studies show elevated serum levels of calcium and PTH. A CT scan of the patient’s neck demonstrates a solitary parathyroid mass. Two years later, the patient presents with hypeension, and a CT scan of the abdomen displays a 4-cm mass in the right adrenal. Genetic studies conducted on this patient would likely reveal germline mutations in which of the following protooncogenes?

ABRCA1
BRb
CRET
DVHL
Pathology
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9205 Pathology

A 15-year-old boy with Albright hereditary osteodystrophy (AHO) is rushed to emergency room with severe muscle cramps and convulsions. The child has a history of mental retardation. Laboratory studies reveal hypocalcemia and elevated blood levels of PTH. Which of the following distinguishes this patient’s endocrinopathy from hypoparathyroidism seen in DiGeorge syndrome?

AAbnormalities in cardiac conduction and contractility
BAccelerated degradation of PTH
CDecreased neuromuscular excitability
DEnd-organ unresponsiveness to PTH
Pathology
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