Genetic causes of acromegalia: a narrative review

Keywords

acromegaly
multiple endocrine neoplasia
Carney complex
fibrous dysplasia polyostotic
gigantism

How to Cite

Román González , A. ., Padilla Zambrano , H. S., López Montoya, V., Gutiérrez , J., & Builes-Barrera , C. A. (2022). Genetic causes of acromegalia: a narrative review. Revista Colombiana De Endocrinología, Diabetes &Amp; Metabolismo, 9(2). https://doi.org/10.53853/encr.9.2.737

Abstract

Context:  Acromegaly is caused in most cases by growth hormone-producing pituitary tumors. These tumors usually occur in a sporadic context or rarely, associated with a hereditary syndrome. In recent years, the landscape of family mutations and syndromes associated with acromegaly and gigantism has expanded.

Objective: The aim of this review focus on the current knowledge of the genetic bases causing familial acromegaly.

Methods: Medical electronic databases and endocrine textbooks were reviewed. Genetic causes of acromegaly are presented.

Results: The genetic causes of acromegaly are diseases such as Carney Complex, multiple endocrine neoplasia type 1, familial isolated pituitary tumors (FIPA), X-linked acrogigantism (XLAG), familial pituitary adenomas with pheochromocytoma/paraganglioma (3P), McCune Albright syndrome and neurofibromatosis.

Conclusions: Multiple endocrine neoplasia should be rule out in all cases of acromegaly though calcium and parathyroid hormone measurement. All patients should have a complete family history ruling out FIPA. Also, in patients presenting at a young age other genetic causes of acromegaly must be sought.

https://doi.org/10.53853/encr.9.2.737

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