new blood results: Carol and others, can you help? (January 2002)

Julia, I can understand your frustration, but, for whatever it's worth, I don't really think your daughter's most recent results are all that bad. The two numbers that are on the high side are the 17-ohp and renin, though, as you said, the androstenedione and testosterone both appear to be within range. Here are normal values for andro, renin, and testosterone.

As far as normal values for 17-ohp, you and Val are both right. "Normal" is indeed 3-90 ng/dl for the general population of prepubertal children. With CAH children, however, it is generally considered that treating till they reach "normal" 17-ohp levels actually means oversuppression, so the acceptable limits are set much higher. In other words, it is actually desirable, with CAH kids, to have 17-ohpnumbers above "normal" as long as the androgen levels (androstenedione and testosterone) stay within normal limits.

How far above? I have seen doctors who consider between 200-1000 ng/dl acceptable. More recently, I came across an abstract from Dr. Migeon at John's Hopkins, (who has written a lot about CAH and is the author of the JHU CAH booklet that is available online) who is even more liberal, and raises the bar to between 500-1000 ng/dl. (See below.) I should probably add, however, that these numbers generally refer to morning blood tests, gotten before medication. Because 17-ohp levels drop sharply after the meds are given, and are generally lower in the afternoon, anyway, often regardless of level of control, I don't think that you could fairly make the same comparison, for tests gotten under different circumstances. As Val said, then, your daughter's 17-ohp levels are a bit out of range, for what is considered okay for a CAH child, but really not by much.

As far as whether to give more weight to 17-ohp or androstenedione: I think that looking at both together provides a good system of checks and balances---17-ohp tends to be more variable, while androstenedione and testosterone are more stable. If they generally make sense relative to each other, I (personally) would consider the androgen numbers more carefully---it's the high androgen levels that do the damage, after all, 17-ohp is really just the warning sign. It's a more important number when one is trying to make the diagnosis of CAH, because high levels after ACTH stimulation indicate an enzymatic block, but after diagnosis has already been established, I would think that the androgen numbers are more useful. Why give the indirect number (17-ohp) more weight when you can go directly to the source of the problems?

And as far as what to do with your daughter's medication: Since she has had a history of oversuppression and has been growing poorly, especially considering her great genetic height potential, I think you have reason to balk at going back to higher doses of meds. Keeping her slightly on the "loose" side of control, in order to let her catch up a bit, may not be a bad idea. On the other hand, I do also think that control has more to do with shifts in momentum, rather than absolute dosages of medication, and since her momentum has shifted dramatically with her last reduction of meds, I would just make sure you don't end up too far on the other side. I seem to remember that your daughter's renin levels were way, way low last time, and now they are too high. Perhaps, it might be possible to keep her from going too far towards undersuppression just by adjusting her florinef dose slightly, without having to increase her cortef dose. What is her med regimen now? And what was it before? How big is she (height and weight)? Also, what were her levels, again, on the old dosages? Sorry for all the questions, but it's much easier to get a sense of what's happening, when there is some sort of context to consider.

One last thing: I would also definitely pay attention to your daughter's general demeanor. We went through periods, after we left Dr. New and were trying to readjust my son's levels, when he was undersuppressed, then oversuppressed. Both situations made him cranky and irritable, though in somewhat different ways. Because Nicholas is older, though, he is able to express how he feels. About a year ago, when his meds were at a very high dosage, I remember how he used to complain that he didn't feel good, and why didn't I listen to him and do something about it? I felt, at the time, that his dose was indeed too large, though we were in a a slightly different situation---long story---and I understood why we had to be patient, before making any dose reductions. Suffice to say, we have been able to substantially reduce his meds, since then (5 different times), over a period of time, without having him escape control. After we dropped his dose, initially, he was a much happier camper and was able to verbalize how much better he felt on the lower dosage. I know your daughter is not quite there yet, but if she was exceptionally cranky before---and with numbers to support oversuppression, to boot---and is much happier on less meds, I would also give that careful consideration.

Anyway...my two cents. And, yes, Val, we are back from skiing...badly! I don't know what has possessed me to think I can take up downhill skiing at the age of 44. Rather silly for someone born in the tropics, who is deathly afraid of height and speed! I am fine with the mechanics of skiing....it's the sheer terror when I am at the top of the hill that I can't get over....LOL!!!

1: Endocrinol Metab Clin North Am 2001 Mar;30(1):193-206

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Congenital adrenal hyperplasia owing to 21-hydroxylase deficiency. Growth, development, and therapeutic considerations.

Migeon CJ, Wisniewski AB.

Department of Pediatrics, Division of Pediatric Endocrinology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. cmigeon@jhmi.edu

In the absence of long-term results of experimental therapies, a common sense approach toward dealing with the growth of patients who have CAH is desirable. First, an effort can be made to decrease the replacement cortisol dose during the first year of life. Doubling, rather than tripling, the basal dose at times of stress could be helpful. The use of adjunctive therapy for infections could result in fewer fevers. After 1 year of age, mean parental height could be used to establish at which centile the child should theoretically grow. The dose of cortisol could be adjusted to maintain the bone age between +/- 1 SD. Plasma androstenedione levels should not rise above 50 ng/dL, and 17-hydroxyprogesterone should not be totally suppressed but be maintained between 500 and 1000 ng/dL. Compliance with therapy should be encouraged, particularly for adolescent patients. In the final analysis, a realistic expectation for patients would be a height between the 50th and third percentile of the normal growth curve and, in some cases, slightly below the third percentile when the genetic potential is slight.