My son was diagnosed with Salt Wasting CAH through newborn screening at 7 days old. He was immediately admitted to our Children’s Hospital. His sodium and potassium levels were way off. (Sodium 126 with a normal range of 137-147, potassium 7.1 with a range of 4.1-5.3). Also, his 17ohp was very high (4000 with a normal range of <90). Sorry I don’t have the units of measurement. That was before I learned to ask - I feel fortunate that I thought to ask for the range!

He didn’t have any signs of adrenal crisis. As far as I knew he was a healthy baby.

Over the years he has had various things tested. He is typically seen by a ped. endo every three months. Although his visits are more frequent during times we lose control. His doc always does a physical exam checking height, weight and blood pressure. He also looks for changes in pigmentation, any signs of puberty, and he looks at his fat pads and fat distribution. He also has blood work done. Depending on the doctor and what our concerns are he has some combination of the following checked: 17OHP, androstendione, testosterone, sodium, potassium, renin, ACTH, cortisol, creatine and aldosterone. His current doc usually checks sodium, potassium, renin, 17OHP and sometimes testosterone. He has his bone age checked annually.

I agree that the use of steroids can be frightening. I try to keep it in perspective by remembering that my child is getting a "replacement dose." Our goal is to get him what he needs to live, what his body cannot produce. In theory, and in an ideal world, he would only be receiving what his body needs, thus not suffering any of the side affects of steroids. Unfortunately, we don’t live in a perfect world. We struggle with oversuppression/overmedication issues while trying to control his bone age and hormone levels.

It is important that people with CAH, even boys, be treated. People with CAH are missing an enzyme that allows their body to convert cholesterol into cortisol. I haven’t tried to explain this in a few years, so anyone feel free to correct me if I have messed up any of the details.

Cortisol is essential for fighting illness and injury, responding to stress, and regulating blood sugar among other things. It also interacts with circadian rhythms.  Our bodies are designed to constantly monitor the levels of cortisol in the body. When levels are too low, hormones are sent out telling the body to produce more cortisol. In a person with CAH, their body cannot produce more cortisol so the cholesterol follows other pathways. There are three path choices, (1) the path to cortisol - not functioning in those with CAH, (2) the path to aldosterone (the body’s natural form of florinef) - not functioning in those with salt wasting. and (3) the path to testosterone.

If the body can’t make cortisol and possibly aldosterone, all the cholesterol gets funneled into the testosterone pathway. This results in very high levels of testosterone which lead to early bone maturation, early fusing of the bone plates, early puberty and ultimately very short height/stature. Also, if the person is only able to produce small amounts of cortisol, their body is at risk during any times of stress or illness. They are not able to recover from illness, can or will go into adrenal crisis and can die. Several people on this board have had children with CAH die - even though they were being treated.

This is such a complicated condition and I really can’t speak to anything other than my son’s situation. I guess I would just sum it up by saying there are several tests that are fairly accurate in diagnosing CAH (newborn screening, stimulation etc). If the docs thought your son had CAH and you wanted to confirm it, I would have genetic testing done.

Hope this helps. Good luck.