Hi Michelle: You have brought out a good concern. I am a Pediatrician and my 9 1/2 month old daughter has SWCAH. I can tell you that my experience has been that response to steroids in most young children is variable. Intitally the children are resistant to steroids and so the endocrinologist needs to use a large amount (sometimes close to 30 mg/m2) then suddenly as the child grows and for reasons not known there response to steroids becomes better there dose of steroids needs to be reduced. If not they get oversuppressed and in young children problem of oversuppression is cessation of growth thereby the chilod's length does not increase and some children instead of gaining weight loose weight and thereby are in the lower centiles.
remember this happens in the infant/toddler age group because this is the period of maximum growth. Even endocrinologist dont know why oversuppression makes some infants loose weight instead of gaining weight.
So the levels of 17-OHP should not be normal in an infant with SWCAH who is not growing well. It should be less than 500 and above 200. So it is a fine balance but IT IS AN IMPORTANT BALANCE. Dont let your endo decide a dose and tell you to come back in 3-6 months. Often sometimes monthly labs maybe necessary in this infant/toddler stage.
So with oversuppression often there is muscle weakness of the large muscles of the legs (proximal muscle weakness) and when abbies are trying to start walking with gross motor there tone is being developed, to that if you add steroid induced proximal muscle weakness eventhough it is mild, it may certainly contribute towards gross motor delay. These babies may not necessarily have any problems in fine motor or language/cognition.
So if you have concerns, just get a PT evaluation from your local FIRST STEPS. They will come and evaluate your daughter and decide whether she needs PT services or not, if they think she does not qualify because she is well within the normal limits then good news, if she does qualify then earlier the intervention better it is and she will catch up quickly.
Next when you go to your endo make sure you ask him if she is ovesuppressed and when he reduces her dose make sure there is a committment to see her sooner so that you know for sure what her growth is doing.
Regards,
KP
