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View Full Version : Isolated ACTH deficiency - familial link?


TAEMom
07-15-2004, 04:35 PM
Hi again,
As we are looking at a diagnosis of an isolated ACTH deficiency for my 8 y.o. son, my 3.5 y.o son has begun losing ground on the growth chart. That was the first symptom in our older son - he just kept slipping down the charts until he was just not eating anything. By age 4, he quit gaining weight completely and by age 7, he wasn't growing in height either.

I asked the endo. today and he said that the ACTH deficiency is so rare, that he's never heard about someone having more than one case in a family, but said that he thinks there is some evidence that it could be genetic. He plans to research it for me, but also said that if we confirm that diagnosis in my older son, then it is almost certainly worthwhile to do an ACTH stim. test on his little brother as well. Does anyone know of a hereditary component to this disease? Will an ACTH stim. test show the disease if it is still in the early stages?

Thanks for your help! Jill

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