Acromegaly

Diagnosis and Testing

Who else in my family should I test for acromegaly?

Because most cases of acromegaly are the result of random events, family members of recently diagnosed individuals do not routinely need tested. However, if they have or develop similar symptoms then, it might be a good idea to have them evaluated by a doctor. Also, in rare situations, acromegaly can run in families. We usually suspect this when children or teenagers are affected. In that situation, it may be more likely for other people in the family to also develop acromegaly. In some individuals with acromegaly an AIP gene change is found that causes that person to be at increased risk to develop a tumor. Based on the type of tumor, the age the tumor was diagnosed in a family member, and other factors, genetic testing of the AIP gene may be useful to help identify other family members who are at increased risk to develop acromegaly. Your doctor can help you understand if you are at increased risk for having a genetic change in the AIP gene and may want to pursue genetic testing. Your doctor may also want to refer you to a medical geneticist or genetic counselor to discuss your risk further. A medical geneticists can be found by asking your doctor for a referral or looking on the American College of Medical Geneticists website. Genetic counselors can be found on the National Society of Genetic Counselors website.

"Acromegaly" ORPHA963. Orphanet http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=963

"Acromegaly" National Institute of Diabetes and Digestive and Kidney Diseases. April 2012. https://www.niddk.nih.gov/health-information/health-topics/endocrine/acromegaly/Pages/fact-sheet.aspx#common

Caimari et al., J Med Genet. 2018 Apr; 55(4): 254-260. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869708/

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