Question: My son has SWCAH and is 2yrs old (25 months). He is very small for his age and we bring it up every time we have an endocrine appt. the senior fellow and attending endocrinologist usually tell us not to worry since he is generally following along the same curve since he was born (5 1/2 weeks premature).
The tests we have done before each appt are: BMP, Androstenedione, PRA and 17-OHP, and we now do blood work first thing in the morning before morning meds (8 AM). We delay his morning meds in order to do the testing.
For our upcoming appointment next week, the results are available and show sodium, potassium and glucose normal, 17-OHP is 522, PRA in the normal range. However, The BUN is always elevated and the Androstenedione is always <5. The doctor never shows any concern for these abnormal results. Our son often has very chapped lips even though he drinks a lot and asks for milk frequently throughout the day. Could there be something wrong with his kidneys? Are these results something to be concerned about? What kind of additional testing should we ask for.?
With his short stature should we be looking at changing his Hydrocortisone dosing schedule from 3times a day to something else? Right now he gets 1.25 mg at 7 AM, 3PM and 8:30 PM. I am very concerned about the short stature (and low weight) and need advice on what to say to the endocrinologist to spark more interest and concern in this problem.
Response: It can take a while for ex-premies to catch up, and generally length is not that accurate for the first 3 years of life. If he is having trouble gaining weight, I usually find that extra salt in salt-wasters can help (even though his sodium and PRA are normal). The undetectable androstenedione is normal in this age (it is high in the newborn period but then should be low until about 5-6 years of age). His 17OHP does not look overly suppressed, so it doesn’t appear that he is on too much hydrocortisone.
I would just continue to monitor his weight and growth as you are doing and try to encourage him to drink plenty of fluids if he seems dehydrated while also adding extra salt if you can.