We have a stumper… I have an 8 year old son with Down Syndrome that has been off the Down Syndrome growth charts since he was about a year old. For the longest time I didn’t care, because he was what others would consider normal for his age. He plots in around the 60th percentile on the “typical” growth chart. Never thought much about it until early last may (he would have been 7 at the time) we discovered he was developing pubic hair. Visited our pediatrician and she did blood work to check thyroid and hormone levels. All were normal. Next was the bone scan which shows his bone growth at 11.5 years. She referred us to the Pediatric Endocrinologist which then did a physical exam and determined that based on physical signs he was in the 2nd stage of puberty. So they did the Stim test to check pituitary and and MRI to check hypothalamus, all test results were negative. Next step they did another Stim test to check for Nonclassical Congenital Adrenal Hyperplasia , that test was also negative. We’re stumped, not sure what to check next and they are basically doing a wait and see how thing are in March at our next visit before determining treatment, if any. Any suggestions? Also on the test for the CAH they did the base draw and then gave him the medication. The next draw was to be 30 minutes later, the nurse came in at 40 minutes to do the draw but could not bet blood, gave up after 15 minutes of trying and said that she needed to skip that draw and just call the blood draw team to do the next draw. Did the next one at what would have been 1 hour and 15 minutes later. I asked if this would effect the results of the stim test and was told they didn't think so because they had levels before meds and then levels at the end of the test and saw basically no elevation. Would this effect the results? if not then why the 30 increments on the draws and have the draws on a schedule?
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