robertaYou should compare the number with others because only your doctor will be the expert on this (or compare the dosages or whatever).... but all of parents have felt the same way and same questions.. what are these numbers and what do they mean.
Ask the doctor to give up the print out of the lab test or write them in a journal or notebook or tablet for your own peace of mind. That way if you change doctors... you can tell them what is going on... and besides this is your baby!! You want what is best for him.
Anyway this is what I read (and PLEASE discuss with the doctor because there can be so many factors... like the time of day they took the blood, how it is measured, etc)... 17-OH progesterone serum level > 200 nmol/L is a confirmed diagnosis of 21-OH or 21-hydroxylase or classical or non-classical (non-salt loser).
The other tests with probably filter paper tests and not serum and then:
high or > 10 nmol/L in newborns is a signal to test further or treat for CAH immediately... because with salt lossing CAH - this is fatal (they die).
I have two boys with the classical salt lossing CAH. Most babies die if not treated from this very severe form of CAH. I would have to go back and look at our records but our number were very high.... because the classical salt wasting form is very fatal. Without medications they usual die at 2 weeks. My baby was 5 weeks but lossing alot of weight. He was over 8 pounds at birth and at 5 weeks - he was less than 5 pounds or barely 6 pounds. He should have been at least 12 pounds. He was lossing salt. It was a miracle that he didn’t die at 2 weeks and some how hung on until I got him to the hospital. The pediatric doctor had been giving me a run around and saying that her scale was off and/or that I needed to feed him more... and not testing him and then the state did not do newborn CAH testing. He was failure to thrive. He was very sick!!
If you baby was not classical CAH... and very sick. You are probably in shock and denial because he is looking okay... not sick like my baby... not lossing weight. But believe me = CAH is nothing to mess around with and out guess the doctor. Do not take just some one advice from just anywhere... listen to the experts - the doctors!! And don’t go to just any doctor because I am sure that if you are in denial if you shop around for a doctor that doesn’t know what he/she is doing you can find a doctor that will tell you want you want to hear (don’t treat the baby ... the baby is fine...). Find an expert doctor in CAH. Ask the doctor how many CAH children he/she has in their practice. Ask for references... ask to network with the parents in him/her care. If you have to travel to find the best doctor - DO IT!!!
Also get the genetic DNA blood testing done by Dr. Maria New. It can defect the 21-hydroxylase (classical and non-classical CAH). .. it would confirm the diagnoisis. I had it done. They take blood from you, your husband and children. They they tell you exactly what type of CAH genes you carry and your children. Very important if you carry the salt wasting genes for future pregnancies... if it was a girl then you would have had problems with the external genitial being virilized or masculinization due to the increased male hormones. CAH causes too much male hormones. What does that mean to your son - too much is not good for a boy either. It too can cause problems with fertility. And also CAH not treated can cause growth problems... the child grows tall as a child but ends up as a short adult. NOT enought cortisol - weak, tireness, stomach aches, etc. If seriously ill or surgery and not enough cortisol - adrenal crisis and death.
This is WHY... you really need to get a good doctor.... not to mention that without treatment and the child is ill and not enough cortisol .... he can die from adrenal shock or what is called an adrenal crisis.
Is your baby lossing salt? That is a more important question. That is very fatal. The imbalance or cortisol and salt (dehydration) causes the coma, low blood pressure and death. Did they check the blood pressure and blood for the salt, sugar, potassium?
Since he is several weeks old - I assume he is not a salt wasting CAH. But some parents of non-classical CAH have told me that their children also lose salt but just not to the degree as the classical CAH. The blood test - plasma renin is important. Did they do that test?
Anyway - the non-classical CAH ... information can be found on the CARES web page. Congential adrenal hyperplasia Research, Education, and Support.
Kelly Leight (she is a mother of a daughter with non-classical CAH and a lawyer - and a GREAT person ... and started a support group (NON-PROFIT) one. The support group can connect you to other (real people ...not just a message board) of others with children with the same concerns and issues. She also has a newsletter, and has done conferences locally to provide education, awareness about CAH.
Call her at 1-866-CARES 27 or 1-866-227-3737 .. 1-973-912-3895.