Idiopathic hypopituitarism--Tests for cause

[Naominjw]

So, in an ideal world, what tests should be run on a young-adult female (does it matter?) to attempt to determine cause for idiopathic hypopituitarism?

Anterior pituitary dysfunction only, possibly of hypothalamic origin, but if so, that is idiopathic as well. Earliest symptom was at 1 year-old, fluctuating at first. So it was an escalating slow progression rather than sudden onset.

She has had an MRI.

Thank you,
-"Naomi"

[rumpled]

The MRI may tell you the least... as 40% of lesions do not show up.
Labwork is key.
But on a 1year old... wow... that is hard. UFCs are hard to collect. Doctors are hard to convince if it is fluctuating. Blood is hard to collect. What are the reference ranges for small children - they are not on lab slips and are certainly not the same as adults (or should not be).
As for idiopathic... I think most sources are... after all, I don't think anyone knows why most people become hypopit or develop a tumor unless there has been trauma and even then, there is good old doctor deny.
I would only run the tests most likely to show results based on symptoms due to the difficulty in getting specimens... and keep testing forever if a perfect world and treat as soon as possible, too, in that perfect world...

[Naominjw]

Well... She is 20 years old now.

I read somewhere (can't find it) that hemochromatosis is the leading cause of idiopathic hypopituitary. Caught early, treatment may reverse it. Some propose that: All patients with 'idiopathic' hypopituitarism should be screened for hemochromatosis (http://www.ncbi.nlm.nih.gov/pubmed/18270843).

I found this website today about diagnostics: http://www.ironoverload.org/diagnosis.html
And my daughter gave me this link with some understandable info about the genetics: http://www.emedicine.com/derm/topic878.htm

[rumpled]

Very very interesting... I went for testing but my iron (ferratin) is all in "normal" levels which I read can mean nothing... but my hematocrit and RBCs are high which is strange as well as I had a B12 that was super high which was bizarre... of course, I was told and continue to be told that all this is normal.
When I was Cushinoid, my ferratin was low for a while...
No matter what, I am tired. But I have a lot of hyperpigmentation. I call it my tumor tan.

[Naominjw]

Your B12 was super high!!!????!!!! MY DAUGHTER'S ALSO!!!! Without supplements!!!

The endocrinologist we traveled out of state to see has seen this in other patients who have traveled to see him with complex symptoms (mostly sleeping). He says that the only reason he can think of for it to be so high is if the body's cells NEED the serum level to be that high--like they are having a problem getting it into the cells, or using it ineffectively. It would be like having a B12 deficiency even with normal levels. He said that if the body didn't need it, the kidneys would have flushed out the excess. But the kidneys must be holding on to it for a reason. He cannot know for sure what is up with that, and how it fits in.

Since the endocrinologist ridiculed me for even suggesting tests to explore WHY the 'idiopathic' hypopituitarism, and ridiculed even more the idea of screening for hemochromatosis, I just faxed a letter to her GP requesting that he order the tests. I included exactly what to order, and how. At least HE is not on the insurance's list of "preferred providers", so he won't be "punished" for ordering the tests.

Sheesh.

-"Naomi"

[rumpled]

Bizarre! My B12 was 1567 (279-996) so er yeah, I consider that to be kinda high, don't you! And no, I was not taking supplements. The body, would, normally get rid of excess as it should. When I was getting testing for the bleeding disorder, my von willobrands factor was way high on the HIGH side, not the low side... again, I am told I am fine, but something has to be up. Now, if I felt all hunky dorey, it would be okay but since I am a mess and a half, but no doc will take the time to figure it out. The best I got was one doc who shook his head and said the test to figure out what is wrong with me has not been developed yet, as sure as shooting, I am ill but he cannot prove it.

[Naominjw]

Bizarre! My B12 was 1567 (279-996) so er yeah, I consider that to be kinda high, don't you! And no, I was not taking supplements. The body, would, normally get rid of excess as it should. Hers was too high to put an exact number on... just ">2000" (211-911). So, if the two of you have an enzyme or whatever defect pertaining to vitamin B12, you could still be B12 deficient in your cells even with sky high blood level.

.... Now, if I felt all hunky dorey, it would be okay but since I am a mess and a half, but no doc will take the time to figure it out. :( I am sorry... that happened to my daughter for very many year. They gave her an antipsychotic and expected her to somehow just get all better. She felt so very very bad. The change when they put her on some hormones were astonishing. And we are still battling. Years more to figure out the malabsorption issue, and learn what she needed to avoid in her diet. Everything takes years... and some doctors, as you said REALLY do NOT want to take the time with a complex problem. She just went to an Integrative MD. He knew in advance what he was getting himself into, but he agreed. It took 2 hours just to skim through her medical history. What doctor is willing to give 2 hours to get an overview of what the problem is? Her GP is that way, but he is not on the insurance's list and we pay upfront for him. We are running out of money... but what are we supposed to do? I am just grateful we got him (found through word-of-mouth, just like the endocrinologist who ran tess and got us off on the right track, at least).

The best I got was one doc who shook his head and said the test to figure out what is wrong with me has not been developed yet, as sure as shooting, I am ill but he cannot prove it.
Oh we know lots of what is wrong with my daughter, but not what the underlying cause is of all the seemingly disparate problems. Doctors say "systemic" "body wide" "on a cellular level" "probably in the DNA" "maybe in the mitochondrial DNA". And maybe decades away from science being able to scan her mtDNA and DNA and know what is really wrong (at the base). My concern is that there are actually hundreds of tests that are available, but doctors don't use them even if you could pay for them! Like... not even MTHFR variants to show the person needs a lot more FOLATE to not be deficient! (see here (http://itsnotmental.blogspot.com/2008/06/nutrition-genes-and-brain-dysfunctions.html)) even though there is a test. I don't think they have found the gene yet for people like you, my daughter and others who need a lot more vitamin B12.

Wow... I love the Internet. When she was young, the Internet was in its infancy. I imagined being able to post a big sign for all traffic to see saying "Do you recognize this child?" with a list of her symptoms!

Now, there are many forums... and it is still hard, but more likely to find pieces of information that might help understand these strange things.


-"Naomi"

[rumpled]

Ah... yes and you hit something else. I had a muscle biopsy and it indicated that I had a COX-2 deficiency - mild, but at my age (40's), I don't think it should be there. But when I tried to get the neuro to follow up at the mitochondrial level, he balked, and said it was just a normal biopsy and it was just myasthenia gravis (mind you, all the antibodies are normal and while I have double vision, that has been since I was a kid with my depth perception issues (yeah they do not ask complete questions...) and the rest of the symptoms just sorta fit, but not really leading him to say I have an atypyical case. The treatments he gave me well, one increased the symptoms, the other (IVIG) almost killed me. If you read up on adult mitochodrial issues, it involves many systems and is non-specific. Joy.

Hmmm... I don't think my folate as been tested. I read the article.. er, yeah, my frontal lobe can't handle it. I think something exploded. :D I see my better endo on Monday and my husband and I plan on grovelling for tests for polysomething vera - a blood disease that has high RBC counts and maybe some genetic testing. I may or may not get it but man, after all this time, I cannot believe I am still not able to work.