Genetics of gigantism and acromegaly.

Abstract

Gigantism and acromegaly are rare disorders that are caused by excessive GH secretion and/or high levels of its mediator, IGF-1. Gigantism occurs when excess GH or IGF-1 lead to increased linear growth, before the end of puberty and epiphyseal closure. The majority of cases arise from a benign GH-secreting pituitary adenoma, with an incidence of pituitary gigantism and acromegaly of approximately 8 and 11 per million person-years, respectively. Over the past two decades, our increasing understanding of the molecular and genetic etiologies of pituitary gigantism and acromegaly yielded several genetic causes, including multiple endocrine neoplasia type 1 and 4, McCune-Albright syndrome, Carney complex, familial isolated pituitary adenoma, pituitary adenoma association due to defects in familial succinate dehydrogenase genes, and the recently identified X-linked acrogigantism. The early diagnosis of these conditions helps guide early intervention, screening, and genetic counseling of patients and their family members. In this review, we provide a concise and up-to-date discussion on the genetics of gigantism and acromegaly.

• Authors: Fady Hannah-Shmouni, Giampaolo Trivellin, Constantine A Stratakis
• Journal: Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society (Growth Horm IGF Res) 2016 Oct - Dec Vol. 30-31 Pg. 37-41 ISSN: 1532-2238 [Electronic] Scotland
• PMID: 27657986 (Publication Type: Journal Article, Review, Research Support, N.I.H., Intramural)
• Copyright: Published by Elsevier Ltd.

Chemical References

• Succinate Dehydrogenase

Topics

• Acromegaly (genetics)
• Adenoma (genetics)
• Carney Complex (genetics)
• Genetic Diseases, X-Linked (genetics)
• Gigantism (genetics)
• Growth Hormone-Secreting Pituitary Adenoma (genetics)
• Humans
• Multiple Endocrine Neoplasia (genetics)
• Multiple Endocrine Neoplasia Type 1 (genetics)
• Succinate Dehydrogenase (genetics)