Adrenal Disorders USMLE Step 1 Practice Question
A 29-year-old woman with medullary thyroid carcinoma presents with hypertension (BP 158/96 mmHg), tachycardia (HR 104/min), and anxiety. Laboratory studies reveal elevated 24-hour urinary metanephrines (450 μg/24h), hypercalcemia (11.2 mg/dL), and parathyroid hormone level of 78 pg/mL consistent with parathyroid hyperplasia on imaging. She denies recent weight loss. Which genetic abnormality is most likely responsible for these findings?
Answer choices
- AInactivating mutation of the calcium sensing receptor
- BActivating mutation of RET proto oncogeneCorrect answer
- CMutation of VHL tumor suppressor gene
- DInactivating mutation of MEN1
- EMutation of NF1 tumor suppressor gene
- FInactivating mutation of the GDNF gene
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