CAH and advanced bone age treatment

[sacha44]

My son began seeing his endocrinologist last year at age 9 when he presented with an advanced bone age of 2 years. We were told that he was just fine and did not require treatment. He had very mild pubic and underarm hair but the doctor seemed to think it was nothing .This past July he had an annual visit and his bone age was now 36 months advanced and he is only 10 with no signs of testicular puberty beginning. My main goal is to pause the bone maturation and close the gap between his chronilogical age and his bone age so that he can reach his genetic height potential. He recently had a 3 HSD Deficiency Screen done and it came back with an elevated value of 644 mg/dl of 17-oh pregnenolone at the 60 minute mark. The normal range is 165-441. Our endocrinologist has prescribed him on 7.5 mg of cortef per day in order to get the bone age to mature at the same pace with his chronilogical age. This would be fine if he was 18 to 20 months advanced, but he is almost 3 years advanced. All of the studies that I have read indicate that placeing on a child with advanced bone age on Letrozole for 1 to 3 years can slow down the bone maturation and allow his age to catch up giving him more time to grow. I dont want to wait and see what will happen. I asked my doctor about Letrozole and he said that was our Ace card if we needed it. I want to give my kid every opportunity to reach his genetic potential and the maintenance treatment with cortef will not do this. I am not please with the course of treatment that we have been given and am looking for a second opinion based on my sons case. I am looking for an aggressive endocrinologist in the country that we could contact for a second opinion on a treatment plan. Is is safe to place him on cortef and letrozole for a few years for his bones to catch up allowing him maximum time to grow. Time is of the essence for us.


This discussion is related to enlarged thyroid surrounded by multiple masses.

[Adbnage]

Hi! I know this post is super old. I was hoping to get a little info from you. Did you end up doing any treatment for your son. Did he reach his potential height? My son is 2 years advanced in bone age. He is 10 and appears to have bone age of a 12 year old. He is already in puberty and I am not wanting to give medicine because it scares me. I would just like to know what happened in your sons situation. Thanks for any help!!