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Acromegaly

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Key Points Î Acromegaly is a chronic disorder caused by growth hormone (GH) hypersecretion. Î Over 95% of patients with acromegaly harbor a GH-secreting pituitary adenoma arising from somatotroph cells. Î In less than 5% of cases, excess growth hormone-releasing hormone (GHRH) secretion from a hypothalamic tumor or a neuroendocrine tumor (usually from lung or pancreas origin) may lead to somatotroph hyperplasia and acromegaly. Î More rarely, ectopic GH production by an abdominal or hematopoietic tumor may cause acromegaly. Î Hereditary conditions include multiple endocrine neoplasia-1 (MEN1), Carney complex, and McCune-Albright syndrome. Germline aryl hydrocarbon receptor interacting protein (AIP) mutations have been described in familial acromegaly with more aggressive tumors. Î Hypersecretion of GH leads to excess production of insulin-like growth factor-1 (IGF-1), leading to a multisystem disease characterized by somatic overgrowth, multiple comorbidities, premature mortality, and physical disfigurement. Î A multidisciplinary approach is critical for the management of acromegaly. Diagnosis Î The Endocrine Society (ES) recommends measurement of IGF-1 levels in patients with typical clinical manifestations of acromegaly, especially those with acral and facial features. (1|⊕⊕⊕ ) Î ES suggests the measurement of IGF-1 in patients without the typical manifestations of acromegaly, but who have several of these associated conditions: sleep apnea syndrome, type 2 diabetes mellitus, debilitating arthritis, carpal tunnel syndrome, hyperhidrosis, and hypertension. (2|⊕⊕ ) Î ES recommends measuring serum IGF-1 to rule out acromegaly in a patient with a pituitary mass. (1|⊕⊕⊕ ) Î ES recommends against relying on the use of random GH levels to diagnose acromegaly. (1|⊕⊕⊕ ) Î In patients with elevated or equivocal serum IGF-1 levels, ES recommends confirmation of the diagnosis by finding lack of suppression of GH to <1 mcg/L following documented hyperglycemia during an oral glucose load. (1|⊕⊕⊕ )

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