Headaches (February 2004)

I am glad your son’s renin levels have been tested. I know it can sometimes take a while for a newborn’s levels to be properly suppressed. Hopefully, your son’s levels will come down in time, even without the Florinef, and you can eventually reduce the amount of Cortef.

With that said, I can think of a number of different parents who have posted about the Florinef / no Florinef issue, over the years, when their children were hard to control on normal doses of Cortef, or had borderline renin levels. Most of these children seemed to eventually end up on Florinef. You can probably find some of their stories by searching through the archives, or starting a new thread on the topic.

As far as whether genetic testing will shed any additional light on the situation: The different severities of CAH---i.e. salt-wasting, simple-virilizing, or late-onset CAH---are usually associated with different mutations. Genetic testing should be able to identify which mutations your son carries, thereby confirming the severity of CAH.

However, not all mutations causing CAH have been identified, and---in some cases--- phenotype (how you present) does not always follow genotype (how you are SUPPOSED to present, given what your genes say.) As a result, genetic testing in CAH is normally used for family planning purposes, and NOT to make treatment decisions. (This opinion is echoed by a number of different well-known physicians in the field. I will post the cites for you later today, as I in a bit of a rush, right now.) In fact, many children are diagnosed and treated for CAH, without ever undergoing genetic testing....that happens later, when they are ready to start a family.

If the genes happen to agree with the symptoms---which happens in the majority of cases---great. But, if there is a discrepancy between the two, it is my firm opinion that treatment should go according to a child’s physical symptoms, regardless of whether the doctor is able to explain the genetics.