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Question: Diagnosis

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You are seeing a 13 year old boy with vague complaints of malaise, nausea, morning headaches, loss of appetite, and intermittent abdominal pain. When he first stands up, he feels dizzy. His exam is notable for tachycardia and hyperpigmentation of his gingiva, lips, knuckles, and palmar creases.

What diagnostic test would reveal his likely condition?

pemsou5_wp • September 6, 2022

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  1. Kelly September 6, 2022 - 10:10 am Reply

    A) Cortisol level
    Although the vague symptoms have a wide differential diagnosis, hyperpigmentation is typical of adrenal insufficiency. Primary adrenal insufficiency is also called Addison disease. Hyperpigmentation is most commonly seen in mucous membranes and areas exposed to pressure: gingiva, lips, palmar creases, elbows, knees, knuckles, breast areolae and nipples, axillae. Other common symptoms are weakness, fatigue, weight loss, nausea and vomiting, AM headaches, orthostatic hypotension, abdominal pain, and tachycardia. Cortisol level will be low (AM cortisol is best due to diurnal variation in “normal” levels, but a random cortisol at the time of ED visit will need to be done in the ED). Electrolyte abnormalities (low Na, high K) and hypoglycemia may occur with adrenal insufficiency, but these are not diagnostic. Adrenal crisis can present with hypotension and shock.

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