Acromegaly and gigantism

Tarakad S Ramachandran MD (Dr. Ramachandran of SUNY Upstate Medical University has no relevant financial relationships to disclose.)
Arun Ramachandran MD (Dr. Ramachandran of the State University of New York at Syracuse has no relevant financial relationships to disclose.)
Zachary N London MD, editor. (Dr. London of the University of Michigan has no relevant financial relationships to disclose.)
Originally released April 1, 1995; last updated July 24, 2015; expires July 24, 2018

Overview

Acromegaly is a disease characterized by the gradual enlargement of the peaked (acral) parts of the body, including the nose, lips, tongue, lower jaw, hands, and feet and by hyperplastic alterations in the entire osseous system. Gigantism occurs before epiphyseal closure. AIP mutations (AIPmut) often predispose to familial isolated pituitary adenomas with clinical features that may negatively impact treatment efficacy. Adolescent acromegaly, which is rare, often presents with tall stature, gigantism, tumor mass effects, and menstrual irregularities. The clinical picture of acromegaly is influenced by many factors, including the levels of growth hormone and insulin-like growth factor, age, tumor size, and the delay in diagnosis. Surgical excision of the adenoma by transnasal transsphenoidal approach or by endoscopic endonasal transsphenoidal surgery is recommended. In the case of radiotherapy, stereotactic radiosurgery with the use of the gamma knife is choice. Pegvisomant, a therapeutic option, blocks growth hormone action at peripheral receptors, normalizes insulin-like growth factor-1 levels, reduces signs and symptoms, and corrects metabolic defects.

Key points

 

• Acromegaly is a disease characterized by the gradual enlargement of the peaked (acral) parts of the body, with hyperplastic alterations in the entire osseous system.

 

• Gigantism occurs before epiphyseal closure.

 

• Acromegaly is usually diagnosed by increased insulin-like growth factor and growth hormone after an oral glucose tolerance test (OGTT).

 

• Surgical excision of the adenoma by transnasal transsphenoidal approach or by endoscopic endonasal transsphenoidal surgery is recommended. Alternatively, gamma knife therapy is also a choice.

 

• Pegvisomant therapy reduces signs and symptoms, and corrects metabolic defects.

Historical note and terminology

Acromegaly, the first recognized pituitary syndrome, was described by the French physician Pierre Marie (Marie 1886). As a young neurologist working under Charcot at the Hospital Salpietre, Marie realized that many of the arthritic patients had an unusual enlargement of the hands and feet, which inspired the name he gave to this disorder (Robbins and Melmed 1987). It is a disease characterized by the gradual enlargement of the peaked (peaked/acral) parts of the body including the nose, lips, tongue, lower jaw, hands, and feet and by hyperplastic alterations in the entire osseous system. Gigantism refers to the increased linear growth affected in children when growth hormone levels are increased before epiphyseal closure. Cushing deduced that the eosinophilic tumors were due to states of overproduction and the hypopituitarism that occurred concomitantly with some eosinophilic and chromophobe adenomas was due to compression of the remaining fragment of the normal gland (Cushing 1909). In the 1920s, Evans and Long found that the injection of anterior pituitary extract caused gigantism in rats (Evans and Long 1921). The impact of species specificity of growth hormone was clarified in 1957, and treatment with human growth hormone proved effective (Lindholm 2006). The museum of cultural history at the University of Marburg has a portrait, "Die grosse Barb," which represents a women suffering from acromegaly (Krause et al 2009).

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