Hello Tubail,

It wasn’t absolutely clear from your post, but I am assuming that the test results you posted were recent ones (after treatment), rather than ones gotten on your son at birth, prior to the start of medication.  If so, in my opinion:

1.  The values you gave for androstenedione and testosterone are NOT normal, but high.  In the States, the more common units for andro, T, and 17-ohp are "ng/dl." If my math is correct:

Androstenedione: 1.2 micg/l = 120 ng/dl  (normal: 8-50 ng/dl)

Testosterone: 0.3 micg/l = 30 ng/dl (normal: 1-10)

17 OHP: 75 micg/l = 7500 ng/dl ("desirable" for CAH children: 200-1000 ng/dl)

Given a high 17-OHP, along with HIGH androstenedione and HIGH testosterone values, along with early failure to thrive, the diagnosis of CAH would seem to be correct.

 

2. In spite of treatment with cortef and florinef, your son’s early growth was very poor.  In my opinion, this may have had to do with the fact that he was not given sodium chloride (NaCl) supplementation as an infant.  According to my son’s doctor, lack of sodium in early childhood can cause a child to have problems gaining both height and weight.  This is because cells need to be bathed in a proper amount of fluids to grow. If the cells are chronically dehydrated, because of low sodium levels,  growth problems may result.

Your son’s growth appeared to improve after NaCl was added to his diet.  This seems to support the notion of poor growth due to inadequate sodium.    

3.  To answer your question "For me as father and also for his doctor the clinical picture of elevated 17 OHP with normal testosterone and normal androstendione levels, without accelerated growth or masculinization is not clear."

Acclerated growth and masculinization in CAH is due to HIGH testosterone and androstenedione levels, not high 17 OHP (even though a high 17 ohp would normally be expected to accompany high T and andro.) One would not expect accelerated growth or signs of masculinization with NORMAL T and andro numbers (as per your question.)    

However, as i mentioned above, I believe your son’s T and andro levels are actually HIGH, rather than normal.  In that case, the question might be instead why is he not showing signs of rapid growth and masculinization, in spite of HIGH testosterone and androstenedione levels? 

In my opinion, this coud be due to one of several reasons (or perhaps a combination):

• From what I understand, rapid growth, due to uncontrolled androgens, usually doesn’t become apparent until after the age of 2.  Your son is just 2 now. Therefore, he could be too young for the problem to be apparent.
• Your son’s renin levels are still high.  This suggests that mineralocorticoid treatment is still somewhat inadequate.  As mentioned above, when mineralocorticoid treatment is inadequate, poor growth may result.  
• When mineralocorticoid treatment is inadequate, you will usually need higher doses of glucocorticoids to control CAH.  Too high doses of glucocorticoids will also cause growth to slow.  

4.  Re. the high aldosterone level:  I dont’ know for sure, but could this not reflect the fact that your son is taking florinef, which is a synthetic aldosterone?   

 

 

In my opinion, your son’s symptoms and tests are consistent, rather than inconsistent, with a diagnosis of CAH.  However, doing a genetic test certainly can’t hurt.  Good luck!