My son almost died because our state (viriginia - did not test for CAH at the time - they are just now testing).  The symptoms are very hidden and gradual.  But with salt wasting CAH - without treatment they will die - usually within 2 weeks - by some miracle my son didn’t die (almost - it was very close).  So the sooner you find the better!! And I am surprised that they don’t just test the blood and urine to see if there is a salt lost (and sugar).  This is very serious!! Although ... with non-salt waster - this is not true (the salt can be low normal but the cortisol levels too low). So the cortisol levels are the issue with the non-salt waster.  Acute adrenal insufficiency is a medical emergency!! YOU NEED IMMEDIATE TREATMENT OR YOU WILL DIE!!  If I had not taken my son to the hospital for IVs and cortisol  - he would have died.

Some or all the symptoms are non-specific (some or all or none - hidden because it is common to see a baby vomit or split up or lose some weight - blood chemistry is more the key):

vomiting (not unusal for babies); slow weight gain or weight loss; darken skin (due to increase melanin production - the skin of the scrotum is often darken or lips, or pressure points) ; acidosis; low blood pressure; hypoglycemia (lack of sugars); hyponatremia, and hyperkalemia.  They will sleep too much; won’t wake to eat (and they need to eat every two hours as newborns); weak; etc. the blood chemistry is imbalanced - the salt is low; and the potassium is too high - causes death (and lack of cortisol - without it or enough - there can not the right balance of fluids - salts and sugars, etc... blood pressure drops, heart stops).

The drugs you took while pregnant had no affect. CAH is an inherited condition. It is caused by a gene that you and your husband carry. Carrier means that you have the gene for CAH but do not have CAH.  

That is why genetic testing is so important.  You would need blood tests from you, your husband and the baby. And it is important to get it done to find out exactly what type of CAH that you and your baby might carry (and you and your husband - so if you want more children - you will know - whether or not that you carry the gene for salt wasting or non-salt wasting).  Non-salt wasting is usual not as severe (but can vary from mild to severe).  With a girl with salt wasting CAH - she is obvious because of the too much male hormones - she is often virlized or looked like a male external but she has female organ internally. That is why sometimes a baby boy will die from CAH - and we never know why.  After he dies - the blood chemistry is too messed up to tell.  It is often called crib death.

Right now - find out what is going on with your son.  I would immediately want to know.  CAH can cause death.  Without treatment - he can go into a coma and die.  AGAIN _ The blood pressure drops, the brain swells, and the heart stops because of the blood chemistry imbalance (lack of cortisol, salts, and sugars).

The initial screening tests are:

chem 8 - (salts, sugars, potassium); testosterone, DHEA; Androstenedione; plasma renin

8 am serum cortisol and ACTH levels (8 am is very important because of the hormonal surge)

Serum 17-hydroxyprogesterone

Serum 11-desoxycortisone (blood pressure is usually high - 11-Beta CAH)

17-OH Pregnenoisone (3-beta CAH)

Now for the tricky part - getting blood out of a newborn.  I heel stick is not good for the chem 8 blood test - and also you need alot of blood.  The the IVs - another hard thing to see done to the baby - but it saved his life!!

If you have any questions - call me - 703-370-4611 (home); 703-697-7357 (work).

There are several kinds of CAH but salt wasting and non-salt wasting is the most common but doesn’t mean the other forms are not just as important and deadly.

1. salt wasting 21-hydroxylase (most common); non-salt wasting

2. 11 beta hydroxylase

3. 3-beta hydroxysteroid dehydrogenase

4. 17-hydroxylase

5. 20-hydroxylase

6. 18-hydroxysteroid dehydrogenase

Other  types inclue cholesterol desmolase deficiency (lipoid hperplasia) and corticorsterone methyloxidase type II.  And Congenital Adrenal Hypoplasia (addisons).

You need a good pediatric endocrinologist!! But any doctor in the ER should be able to do the chem 8 blood test for salts, sugars, and potassium.  My son was in the PICU for 5 days and why they didn’t check the chem 8 - is beyond my reasoning!! Maybe it is low-normal for awhile until they crash.  And when they crash - it goes fast and they can die  - very fast!! At 5 weeks - his salt was VERY low; and sugar; and potassium very high.  He was in real trouble.  It was a miracle he didn’t die. 

You don’t get too many miracles!!

Roberta