Hi John,

It seems like your son may have the Classical form of Non Salt Losing CAH sometimes called Simple Virilizing CAH. It is more severe than non-classical (NCCAH) as it usually renders only about 2 -3% enzyme function as compared to 15% or more with most NCCAH’s. On the bright side it does not have the same level of salt loss that SWCAH (salt wasting) people experience although there can be some difficulty retaining salt as seen through raised plasma renin levels.

The implications of SVCAH is that there is less cortisol production than in a NCCAH person and therefore a greater need for vigilance in taking replacement medications to prevent adrenal insufficiency.

Mineralocorticoid (florinef - salt retainer) may need to be added to an SVCAH person’s treatment regimen to optimize growth and help reduce corticosteroid dose as time goes on.

It’s good to keep in mind that CAH is a continuum of severity from most severe 0% enzyme function (total cortisol and aldosterone deficiency) to 50% enzyme function (least severe NCCAH -> carriers). Most of these will generally display symptoms fairly parallel to the enzymatic defect however sometimes the apparent level of enzyme deficiency as verified by DNA analysis (genotype) does not always match the expression of the disorder in that person (phenotype).

The main thing is that your son has been diagnosed early and with skillfull treatment he may avoid some of the problems often associated with a later diagnosis. Was he diagnosed through newborn screening?