JOURNAL ARTICLE
REVIEW

Pathogenesis of familial acromegaly

Mônica R Gadelha, Lawrence A Frohman
Frontiers of Hormone Research 2010, 38: 121-6
20616502
Familial acromegaly may occur as a component of syndromes of multiple endocrine neoplasia or as isolated familial somatotropinoma (IFS), which is included in the spectrum of familial isolated pituitary adenoma (FIPA). We review the pathogenesis of IFS, from the detection of loss of heterozygosity at chromosome 11q13 and establishment of linkage to this chromosome region to the description of germline mutations in the aryl hydrocarbon receptor-interacting protein (AIP) gene. Approximately 40% of IFS families harbor an AIP mutation. In addition, we summarize the clinical features of IFS families with AIP mutations: The adenomas are diagnosed at a young age and are larger than in IFS patients without AIP mutations or in sporadic somatotropinomas, indicating more aggressive disease.

Full Text Links

Find Full Text Links for this Article

Discussion

You are not logged in. Sign Up or Log In to join the discussion.

Related Papers

Remove bar
Read by QxMD icon Read
20616502
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"