Hi Jennifer,

I realize that something may have been lost in translation, but a couple of things that your doctor said really don’t make much sense.

1. "The endo explained to me that it looks like an excessive amout of aldesterone."

Aldosterone wouldn’t have anything to do with increased pubic hair or penis length.  However, testosterone would.   Is it possible he said "testosterone" instead? 

I would be a bit worried if the doctor really thinks that signs of virilization such as you describe are due to high aldosterone. Not only is aldosterone unrelated to signs of virilization, but a salt-waster with CAH doesn’t even produce aldosterone, so the problem certainly would not be an excess of aldosterone!

2.  "He said that they were normal. I asked him about Lupron. He said that it was for something different that this had to do with his gonads."

I think you were talking about the size of the testicles when you said the doctor said they were normal.  However, this statement is also confusing because, in a boy, the testicles ARE the gonads.  So I am not sure what the doctor means when he says the testicles are normal but there is problem with the gonads since the gonads and the testicles are the SAME THING!  

*****

Most of the time in a child with CAH, signs of virilization are due to excess androgens (including testosterone) which come from the adrenal glands.  However, if there is also a problem with central precocious puberty, testosterone would also come from the testicles (gonads) if you are a boy.  With the dramatic physical changes that you are describing, I would also be worried that your son now has a problem with CPP and is producing testosterone from the testicles.

The CAH kids who are most likely to have a problem with central prcecocious puberty are those who are 1) late diagnosed (not treated from birth) or 2) those who have been undertreated for long periods of time, THEN brought under good control. From what you have described of your son (years of undersuppression followed by high doses of Cortef), it sounds like the latter could be a possibility with your son, especially if accompanied by the sudden physical changes that you are seeing.

I would ask the doctor for further clarification about his previous statements and, if he can’t explain himself a bit better, quickly seek out another opinion.  Best of luck!