It took 15mos. filled with various tests and years of misdiagnosis, but after the results of the last ACTH stim test, the endocrinologist finally said that it was time to concede that our son's first diagnosis is the correct one. He has an idiopathic isolated ACTH deficiency, which is evidently quite rare.

The day of the test, the endo. was certain that Andrew's scores would be "normal" and I assured him that they wouldn't. It's incredible that doctors think we can't tell when something is wrong with our own children!

I don't have reference ranges, but his latest stim. test results, done after fasting, and starting at about 9am, were:

Baseline cortisol - (lab forgot to run this, so we're still waiting! Given his later results though, it will obviously be low.)
20min. cortisol - 8
ACTH - 22

His thyroid and growth factor still appear normal:
T4 - 9.2
TSH - 2.6
IGF1 - 204
IGFBP3 - 2.5

His bone age, which was 2.5yrs. delayed, has advanced a year since beginning Cortef a year ago. Obviously, more good news. He is slowly beginning to catch up to his peers in size.

Those of you that are still fighting with doctors for a diagnosis for yourself or for your kids, keep up the fight. The results of getting proper treatment are amazing and so worth it.

Finally got the lab report from the endo. with the complete (?) results and ranges. I thought it was all clear when she told me on the phone, but now I'm wondering again.

Here's what's on the lab report (9am):
Cortisol 5.4 UG/DL (no ref. range given)
ACTH 22 pg/mL " "
T4 9.2 UG/DL (6.4-13.3)
TSH 2.67 uU/ML (.37 - 6.0)
Somatomedin C 204.5 NG/ML (81.4-290)
IGF-BP3 2.5mg/L (1.5 - 4.3)

9:30 am
Cortisol 8.1 UG/DL

Since the base cortisol didn't even double, then you would assume this is a primary case, correct? Should the ACTH have been reported at 9:30 as well and is there usually a reference range reported with it? Can't figure out why the endo. insists its secondary, and that it's an ACTH deficiency unless it's because Andrew has no other symptoms of primary - potassium, etc. has always been normal and he doesn't have the tanning. Is it possible to have primary deficiency without the "other" symptoms of it? This has been going on for years, so it's not like he is in the early stages and just hasn't developed all of the symptoms yet.

Andrew has never had any tests for adrenal auto-immune antibodies as far as I know, although he has had an amazing number of blood tests. Is that test a simple blood test also, or is there more to it? Would the test for auto-immune antibodies be a standard test that should have been run as soon as he was diagnosed with low cortisol last year?

Thanks again for any input,
Jill


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