Our DNA tests showed my son has inherited complete gene deletion from both parents - surely you can’t get more severe than that?  He doesn’t make any cortisol himself and is a heavy salt loser (currently on 200mcgs of fludrocortisone per day at 16 years of age).  However, I was told that most with SWCAH do not produce cortisol once they are on medication as the adrenals become dormant due to artificial administration of the necessary hormones, just producing excess androgens if on an insufficient cortisone dose.  Whilst the first couple of years of life were difficult, with infections causing frequent trips to hospital, since then my son has remained reasonably healthy and has not been excluded from any sport, school trips etc and is able to compete with his peers.

A few years ago I had full hormonal screening, including an ACTH stim test, the results of which came within the carrier CAH range.  However I was told my cortisol levels were normal and  this was to be expected as we only have one faulty copy of the gene and the other compensates.  If carriers only produced half the amount of cortisol needed, why are they not producing excess amounts of androgens as a result?  Also why do they not go into early puberty and have all the symptoms attributed to non-salt-losers who do not make enough cortisol either?  If carriers of CAH were all short, overweight, with hirsutism and fertility problems as a result of this hormone imbalance, that in itself would be enough to cause the depression/anxiety disorders mentioned!   

I don’t mean to rock the boat here, but am just curious as to the conflicting advice and information that is obviously given to families from their childrens doctors and am not sure what to believe! 

Has anyone had their DHEA levels checked?  I understand that this is usually quite low in people with CAH and as this is known to have quite an effect on well being, wonder if this could contribute to depression/anxiety disorders.  Is this low in carriers too? 

I agree with Lynn, there is still a lot that needs doing to improve the treatment of kids with CAH first but it is interesting to hear the experiences of carriers.  It is good to see that there are some doctors researching the carrier status, which in itself could also help with the understanding of the condition.