The genetics of pituitary adenomas

From Jorge D Faccinetti – cofounder.  From the National Institutes of Health – (NIH), US National Library of Medicine, comes the “Genetics Home Reference; Your Guide to Understanding Genetic Conditions”.  This is an outstanding resource to help patients understand the basics of human genetics.  The “Help Me Understand Genetics” section provides an introduction to fundamental topics related to human genetics, including illustrations and basic explanations of genetics concepts.

Most importantly, it offers a comprehensive guide with the latest knowledge on many conditions including pituitary disease.  Of particular note is the section on Familial Isolated Pituitary Adenomas.  The Home Genetics Reference report offers a comprehensive review of FIPA, its frequency, genetic changes, inheritance patterns and sources for diagnosis and management.

You can read more PWN articles on FIPA here.

We especially recommend the articles on the work done by Dr Marta Korbonits of St. Bart’s in the UK.  The center at St. Bartholomew’s Hospital in London is one the largest, where both clinical research as well as basic research is conducted to understand the mechanism of the disease and correlate that with the unique features of the clinical syndrome.

Stay tuned for more on the latest developments on this and other fascinating subjects.

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2 COMMENTS

  1. I have been living with pituitary problems for as long as 40 years, maybe more. It became evident about 38 years ago when I could not get pregnant. An endocrinologist in Canada put me on Parlodel because I had too much prolactin in my bloodstream. No tumor was found at the time and I thought the problem had been caused from being on the contraceptive pill for too long. I had 2 more children and very gradually developed more symptoms. They were so gradual, even I did not notice. The increase in shoe and ring size I put down to age and wearing Birkenstock sandals. I got fed up with doctors trying to put me on blood pressure meds without getting to the bottom of the symptom. I was not overweight, did not smoke and did not drink to excess. I did my own on-line research and eventually went to see an endocrinologist of my own volition last year. He diagnosed acromegaly and referred me to a surgeon. Surgery was scheduled for January 30 this year, but on January 12, I had a heart attack. If only I had obtained the diagnosis 10 years ago! Surgery is now scheduled for August 2. I have been a vegetarian since childhood and I am now 100% vegan and following the Caldwell Esselstyne diet to prevent and reverse heart disease. My heart is now in good shape (plus 3 stents!) and I have a feeling that if I had not been at least vegetarian for most of my life, I would not have reached 74 years of age. I am convinced there is a link between acromegaly and diet. If anyone ever does a study on it, count me in.

  2. When you are talking genetics of pituitary adenomas…does this include MEN …multiple endocrine neoplasia?? Would any of the genetic testing kits …23 & me, Genes for Good, etc…include testing for genetic pituitary adenomas or MEN?? I have formally seen a geneticist prior to my hypo pituitary diagnosis…I was diagnosed with Ehlers Danlos Syndrome. Wondering what should I ask him for …imaging, blood, and gene testing??

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