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congenital adrenal hyperplasia

my daughter has been diagnosted with possible congenital adrenal hyperplasia...could you explain to me what it is?..I have made an appt. with an endocrinologist, but it is for january 18, 2008. Please answer me, I can't wait for that date.
1 Responses
310293 tn?1274743373
MEDICAL PROFESSIONAL
Firstly, tell me how old your child is and how they diagnosed her and what treatment is she on?
Congenital adrenal hyperplasia is an inborn metabolic problem.
The adrenal glands rest just on top of our kidneys. They have 3 zones that make separate important hormones in the body, adrenaline or epinephrine(hence the name adrenal) is one of them, cortisol is another and aldosterone is another. These are the 3 end products of many step pathway.
The pathways have several hormones that need enzymes to convert each one working towards the final hormone. In regards to cortisol and aldosterone the hormones that lead to their production can be built up if the enzyme needed to convert them to cortisol are not working.
So often these hormones that build up are male hormones-dheas, androstenedione, 17-hydroxyprogesterone and 17-hydroxypregnenolone to say a few tongue twisters. In females at birth if this is a complete block of the enzyme 21-hydroxylase then the 17-OH progesterone builds up and this can lead to excessive exposure to male hormones, the female infant is susceptible to some virilization or her external genitalia can become enlargened looking very male like even though she is indeed genetically a female.
This tissue is very responsive to these hormones.
If the child is missing a certain variant of this enzyme then the salt retaining hormone aldosterone will also be missing and not only will we miss cortisol for good stress response we will not have the ability to retain salt and have low blood pressure.
The tricky part about cah is that we do find it quickly in girls due to the outward appearance and any changes we might see, however, boys are harder to tell, they don't necessarily show any signs as their body parts are rarely affected by the build up of male hormones, so these boys if they do have salt wasting can very well be missed and die if not attended to.
There are some children that present with this enzyme deficiency but in a partial way in that they may not present till later in childhood, making enough cortisol but having just a little too much male hormone, so in girls they may present with early pubic hair or body odor or acne-what is considered early puberty.
I agree waiting is not appropriate, that is why I need to know how old, what is she taking and how they diagnosed her, this may help us sort things out.
You can have significant problems when your adrenal gland is not working appropriately, these patients are almost like an addison's patient with lack of cortisol when they need at times of stress.
Cortisol is required to keep your sugar up, blood pressure up and help with sodium balance amongst other things in the body.
I look forward to hearing from you
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