Acromegaly

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Disease Overview

Acromegaly is a hormonal disorder that results from the pituitary gland producing too much growth hormone (GH). It is most often diagnosed in middle-aged adults, although symptoms can appear at any age. Signs and symptoms include abnormal growth and swelling of the hands and feet; bone changes that; alter various facial features; arthritiscarpal tunnel syndrome; enlargement of body organs; and various other symptoms. The condition is usually caused by benign tumors on the pituitary called adenomas. Rarely, it is caused by tumors of the pancreas, lungs, and other parts of the brain stimulating the pituitary gland to produce GH.[3376][13043] It is sporadic in 95% of the cases, but almost 50% of the childhood-onset cases have an identifiable gene mutation, most commonly in the AIP gene or GPR101 gene.[13041][13043] Treatment may include hormones, radiotherapy, and surgery. When left untreated, it can result in serious illness and premature death. When GH-producing tumors occur in childhood, the disease that results is called gigantism rather than acromegaly.[3376][13043]
 
Acromegaly may also be part of other genetic syndromes such as multiple endocrine neoplasia syndrome type 1 and type 4hereditary paraganglioma-pheochromocytoma syndromeMcCune-Allright syndromeneurofibromatosis or Carney complex.[13041] 


Synonyms

  • Somatotroph adenoma
  • Growth hormone excess
  • Pituitary giant

For more information, visit GARD.

National Organization for Rare Disorders