Genetics of gigantism and acromegaly

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• 作者：Fady Hannah-Shmouni ; MD ; Giampaolo Trivellin ; PhD ; Constantine A. Stratakis ; MD ; D(Med)Sc ; ^{stratakc@mail.nih.gov}
• 关键词：Acromegaly ; Gigantism ; IGF-1 ; GH ; Genetics ; X-LAG ; Pituitary adenoma
• 刊名：Growth Hormone & IGF Research
• 出版年：2016
• 出版时间：October-December 2016
• 年：2016
• 卷：30-31
• 期：Complete
• 页码：37-41
• 全文大小：342 K
• 卷排序：30

文摘

Genetic causes of gigantism and acromegaly include 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 X-linked acrogigantism (X-LAG). X-LAG is caused by microduplications on chromosome Xq26.3 and may be responsible for as many as 80% of the cases of pre-pubertal gigantism. Dealing with a young patient with gigantism or acromegaly should always involve genetic counseling regardless of family history, as many of these conditions have decreased penetrance and first-degree relatives that are carriers may not be affected.