• Elevated ACTH

• No Cortisol suppression with dexamethasone

2. Primary hyp er aldosteronism (Conn syndrome)

a- Definition: adrenocortical adenoma producing aldosterone b. Clinical feature: hypertension c. Lab: hypokalemia, elevated aldosterone, and decreased renin

3. Adrenogenital syndromes a. Definition: adrenal disorder characterized by excess production of androgens and virilization b. Etiology i. Adrenocortical adenoma/carcinoma; producing androgens ii. Congenital adrenal hyperplasia

• Autosomal recessive enzyme defect

• Most common: 2L-hydroxylase deficiency

4. Waterhouse-Friderichsen syndrome (acute adrenal insufficiency)

a. Definition: bilateral hemorrhagic infarction of the adrenal glands associated with a Neisseria infection in a child b. Clinical features i. Disseminated intravascular coagulation (DIC)

ii. Hypotension and shock iii. Acute adrenal insufficiency iv. Often fatal c. Treatment: antibiotics and steroid replacement

5. Addison disease (chronic adrenocortical insufficiency)

a. Definition: destruction of the adrenal cortex, leading to a deficiency of glucocorticoids, mineralocorticoids, and androgens b. Etiology i. Autoimmune adrenalitis ii. Tuberculosis iii. Metastatic cancer c. Presentation i. Gradual onset of weakness ii. Skin hyperpigmentation iii. Hypotension iv. Hypoglycemia v. Poor response to stress vi. Loss of libido d. Treatment: steroid replacement

6. Pheo chromo cytoma a. Definition: uncommon tumor of the adrenal medulla, which produces catecholamines b. Clinical presentation i. Severe headache ii. Tachycardia and palpitations iii. Diaphoresis and anxiety iv. Hypertensive episodes c. "Rule of 10Y"

i. 10% occur in children ii. 10% are bUateral iii. 10% occur outside the adrenal gland iv. 10% are malignant v. 10% are familial (MEN II and III)

d. Diagnosis: elevated urinary vanillylmandelic acid (VMA) Multiple Endocrine Neoplasia Syndromes (MEN)

1. MEN syndromes a. Autosomal dominant inheritance with incomplete penetrance b. Characterized by hyperplasia and tumors of endocrine glands

2. MEN I (Werner syndrome)

a. Features tumors of the pituitary gland, parathyroids, and pancreas b. Associated with peptic ulcers and the Zollinger-Ellison syndrome c. Genetic mutation of MEN I gene

3. MEN II (Ila or Sipple syndrome)

a. Features medullary carcinoma of the thyroid, pheochromocytoma, and parathy raid hyperplasia or adenoma b. Genetic mutation of RET pro to-oncogene

a. Features medullary carcinoma of the thyroid, pheochromocytoma, and mucocu taneous neuromas b. Genetic mutation of RET pro to-oncogene

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