Acromegaly is a rare, chronic disease caused by excessive secretion of growth hormone (GH), usually due to a pituitary somatotroph adenoma. It is associated with increased morbidity and premature mortality if not appropriately treated.
The diagnosis is often delayed. Early recognition and appropriate treatment are crucial for reducing the potentially debilitating complications of the disease.
Must be screened for in the presence of pituitary adenoma, profuse sweating, acral growth, coarsening of facial features, and when suspected in conjunction with commonly associated conditions, such as carpal tunnel syndrome, arthralgia, glucose intolerance or diabetes mellitus, amenorrhea, hypertension, and sleep apnea.
Modern surgical and pharmacologic modalities are associated with improved outcomes. Normalization of plasma insulin-like growth factor 1 (IGF-1) and a decrease of plasma GH to below 1 microgram/L bring the mortality rate to normal.
Monitoring and treatment of the comorbidities associated with acromegaly are essential for improving patient quality of life.
The term acromegaly is derived from the Greek akros (meaning extremity) and megas (large). It refers to the characteristic growth of extremities, which describes one aspect of the disease. Acromegaly is a chronic, progressive, multisystemic disease associated with significant morbidity and increased mortality. It is caused by excessive secretion of growth hormone, usually due to a pituitary somatotroph adenoma. Gigantism occurs with disease onset in childhood (prior to epiphyseal closure).
History and exam
Key diagnostic factors
- coarsening of facial features
- soft-tissue and skin changes
- carpal tunnel syndrome
- joint pain and dysfunction
- alterations in sexual functioning
- history or family history of inherited syndrome
Other diagnostic factors
- hypertension, arrhythmias
- increased appetite, polyuria/polydipsia
- visual field defects
- signs and symptoms of hypopituitarism
- cranial nerve palsies (e.g., ophthalmoplegia)
- GPR101 overexpression
- multiple endocrine neoplasia type 1 syndrome
- isolated familial acromegaly
- McCune-Albright syndrome
- Carney complex
1st investigations to order
- serum insulin-like growth factor 1 (IGF-1)
- oral glucose tolerance test (OGTT)
- random serum growth hormone (GH)
Investigations to consider
- pituitary MRI or CT scan
- GH-releasing hormone
- chest and/or abdominal CT scanning
- total body scintigraphy with radiolabeled somatostatin analog (octreoscan)
- PET scan with radiolabeled somatostatin analog (Gallium-68 DOTATATE)
- plasma cortisol
- thyroid-stimulating hormone (TSH) and free thyroxine
- estradiol or testosterone
- visual field testing
enclosed pituitary tumor
unresectable pituitary tumor (with neural or vascular impingement/invasion)
nonpituitary adenoma etiology
pituitary adenoma progression or recurrence
- acromegaloidism or pseudoacromegaly
- A Pituitary Society update to acromegaly management guidelines
- A consensus on the diagnosis and treatment of acromegaly comorbidities: an update
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