From J D Faccinetti, co-founder – Recently, Dr. Blevins sent me a link about the fascinating story of the Irish giants. These were compelling historic characters that during their lives made a living in shows, festivals and public square spectacles. They are part of Irish folklore. This link will take you to the page. Definitely worth a look! Reading about each of these famous giants prompted me to dig a bit more to see if there was anything new to report on the genetics of pituitary adenomas. And while there are no earth-shattering developments , it is always fascinating to read about it and hunt for new sources of information.
We have published about FIPA and Irish giants in the past, mainly related to Dr. Marta Korbonits’ work on the genetics of pituitary adenomas. Prof. Marta Korbonits‘s clinical group at the Department of Endocrinology, St. Bartholomew’s Hospital, Barts, and the London School of Medicine, London, United Kingdom, is leading the research effort in collaboration with the International FIPA Consortium.
I would bet that for most of you, like me, the first thing you think about once you are diagnosed is, can I give this thing to my kids? So, we are always interested in the type of data that would assess your children, grandchildren, and extended family’s risk of contracting a pituitary disease. Genetics is complex science, and understanding the nuances can be tricky, particularly for anyone without a strong science foundation. As we always stress, going to reliable resources based on strict scientific methods is critical.
As for whether you should do a genetic test, it is probably best discussed with your doctor and endocrine team. I asked Dr. Blevins for his opinion.
“Most pituitary tumors, he said, are not due to inherited mutations. In fact, he added, only about 1% of tumors can be attributed to one of several genetic conditions. An equally small proportion are likely due to new mutations where the patient will be the first in a family with offspring at risk for these tumors. Generally speaking, generic testing is not required in the absence of a strong family history of pituitary tumors or other associated conditions. I will say, however, that one of these days we may find ourselves testing all patients. A lot more research is needed before we get to that point.
These sources are some of the best; you can check the links below to learn more:
Queen Mary University FIPA Website
Familial Isolated Pituitary Adenomas FIPA
FIPA patient information from AMEND
BBC News – Acromegaly: ‘Giant Gene’ bond forged between US and Mid Ulster
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