Hi Liz,

It is sad but true, that there are still children in western countries where a diagnosis of CAH is overlooked in their younger years. Consequently these children/young people battle on with all sorts of symptoms, illnesses and exhaustion for years.   Who knows how many there are out there.

You say that your son has finished growing - is his final height reduced, compared to what you would have expected, judging by parental height? Did he have symptoms as a young boy say, five or six years old of penile enlargement or pubic hair?

The fact that your son is tanned, probably means that he has quite an elevated baseline ACTH, which sounds like he may be adrenally insufficient. Adrenal insufficiency in this case, more likely points to a diagnosis of Classical CAH, the Simple Virilizing (non-salt wasting) type. In most instances, untreated Non-Classic CAH people do not show signs of adrenal insufficiency. 

Depending of course on what your son’s endocrinologist advises, the risk of not being treated with corticosteroids, is twofold: 

First is that he may develop Leydig Cells tumours/adrenal rest tissue in his testicles. Now don’t panic- these tumours are mostly benign but they can cause male infertility. Adequate steroid treatment usually aids in their resolution although, if that fails, I think they can be removed (without damaging the functioning of the testicle). 

Secondly a person with adrenal insufficiency is at substantial risk if/when they have a severe illness or injury. Their body simply cannot produce the amount of cortisol required to mount a stress response, in such a situation. Therefore given the right (or rather wrong) circumstances their life may be in jeopardy.

(Perhaps at a later date you may consider a DNA test which can be helpful in eliciting his CAH mutation - thereby clarifying his level of deficiency - but it can be expensive).

Feel free to ask questions here.