Acromegaly
Inheritance
How is acromegaly inherited?
Current data suggests that most cases of isolated acromegaly are not due to an underlying hereditary (genetic) cause that gets passed through a family. However, when acromegaly begins in childhood or adolescence the gene aryl hydrocarbon receptor interacting protein, AIP, is thought to be a susceptibility factor. It is also suspected when many people in the family are affected. We are still learning more about this gene and its associated risks.
Sometimes acromegaly is seen as part of other genetic conditions. For example, those with multiple endocrine neoplasia (MEN1) or Carney Complex can develop acromegaly. But this is due to the underlying genetic cause for those conditions and not due to an isolated event.
References
- "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
- "Acromegaly" ORPHA963. Orphanet http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=963
More Inheritance Content
If someone in my family has acromegaly, how can I find out if I am at risk?
If someone in my family has acromegaly, how can I find out if I am at risk?
Most cases of acromegaly do not have a know genetic cause. However, in rare cases, acromegaly can be found to run in families. 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.
References
- Caimari et al., J Med Genet. 2018 Apr; 55(4): 254-260. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5869708/
