Prader-Willi Syndrome is a developmental disability. I haven't worked with kids in many years, so I can't give the detailed diagnostic vignette I could have rattled off the top of my head then. Also, that was before the endocrine aspects of this disorder were understood. Well, I'm not sure that they are understood now, but I guess there is progress. But it's a chromosome deletion disorder that results in mild to moderate intellectual impairment. You've written a very nice email that suggests at least average intellectual functioning - whatever else you need to worry about, you can probably take Prader-Willi off that list.
I hope this helps. (I know I always feel better when I can take a serious diagnosis off the list.)
I don't know much about prader-willi, but your symptoms do overlap with what I had which was Cushing's syndrome.
Not everything may be related - but a lot like the belly, immune system issues, apnea, hypothyroid, diabetes, and others can point to elevated cortisol.
But you would have to rule out other auto-immune diseases and you could have concurrent issues.
I was also a late talker and then they tell me I never shut up... :)
you are correct. Now family doctor doing TB evaluation.
What do you think for Prader Willi Syndrome, Being 55 male , I remember some of episodes during childhood-
Late Speech -like even at 4 years I was not speaking.
Apendicites surgery was done at 28 years
Get infections, throat problems -temperature goes quite high while in India upto years 24-25,
during years 30-32 getting Sinusitis of very severe attacks, have taken more than 8-10 antibiotic courses,
Have belly weight and obesity for last many many years, heat and cold in tolerate.
Present have hypothyroid,Diabetic,Hypertension, weak immune system , osteoarthrites, sleep apnea-- sleep disturbance, during early age almost daily getting up in night and sweating ,shouting with discomfortance.
May be these all signs moving towards Prader Willi Syndrome.
You can please guide further tests - will ask my family doctor
Thanks for your guide
In a *normal* stim test, the results should consistently go up, but yours dropped - so that is an inconsistent result. So you did have a nice doubling, almost, but you did not sustain it or keep going up - which should make the doc really think, but if the endo is a simple numbers guy/gal, sadly they don't think and will just pass you.
As for the ref ranges - I am not sure they apply. Most times the ref ranges are for normal testing and not stim testing.
Even in our system, we have to fight to get testing and get proper testing and get to a decent doctor. I have to travel far. It is only going to get harder now.
Thanks,
Glucagon stimulation shows-
CORTISOL== 193 374* 245 311 341 Endo mention that only result 374 is pretty good.
What can be explained for other results I dont know.
Growth Hormones == 0.7 0.5 0.5 0.1 1.0 ref range 0.0 to 3.0
What does it mean -- IMHO, as you said above.
What do you think there must be some reason for all signs and underlying medical concerns. But our health system is like that.
You can please guide that what other tests can be done.
I am waiting for MRI, my family doctor have done his best to get early MRI on Dec,12.2013 otherwise MRI takes 6-9 months,
Ideally the test should be done at 8am fasting for the cortisol test to be valid. The cortisol went up and dropped - that is not usual IMHO. I don't know the exact cut-off for ITT and GH but you appear to have not stimmed well at all there. I had a different stim agent. I don't envy you glucose guys.
The low GH can really mess with you, and once you get on replacements and get stable, you should feel better. I know I did.
I hope you get copies of other tests like thyroid - and get more info under your belt.
Yes going to see Eye doctor on 23 dec,
Insuline tolerance test- done by giving total 30 units of insuline in three lots, 2.3 level mmolL was reached 11.10 A.M,following numbers-
9.20 A.M 11.30 A.M 11.50A.M 12.20
Human Grwoth Hormones 0.3 1.0 1.1 1.0 ug/L
Cortisol 206 640 585 508 nmol/L
GLUCOSE 11.10 A.M=2.3 ,,11.30A.M=5.8 ,,11.50A.M=7.6,,12.20=9.1 mmolL
Signs of growth hormones are experiencing, will send Glucagon Stimulation test results will sent in next ,
thanks again, u carry tons of knowledge, GOD BLESS
Do you get copies of all your tests - and your MRI reports?
If you have not had the MRI, try to make sure it is a dynamic MRI so it is pituitary specifications.
What time was the cortisol test done?
Have you seen an eye doctor - MD that is, and had your optic nerve checked lately? Any testing to see if side vision impaired?
Low GH in an adult is not fun - and the symptoms can mimic Cushing's or actually be a symptom of Cushing's - so one low cortisol test cannot rule that in or out. Your doc should view your obesity (taking obs as that, sorry if wrong!) as a symptom, not an obstacle as well sleep apnea is really common in people with pit issues as well.
Is your endo a pit endo - aka neuro-endo?
Most pituitary lesions - as in 99% - are not cancer - but the symptoms are nasty.
What to do is get copies, read up, ask questions and hopefully we will get you to competent care and get you back on the road to health. There are links in the health pages as well that can help.