1 MCQs in Medicine for NEET PG
A 9-year-old girl born to consanguineous parents presents with failure to thrive, severe hypertension (BP 165/110 mm Hg), polyuria, and polydipsia. Laboratory investigations reveal hypokalemia (2.5 mEq/L), metabolic alkalosis, suppressed plasma renin activity, and suppressed aldosterone levels. Urinary free cortisol-to-cortisone ratio is markedly elevated. Genetic testing reveals a homozygous loss-of-function mutation in the gene located at the region marked **A** in the diagram. Which of the following best explains the pathophysiology of this patient's condition?
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