robertaThey would check the two year blood first for hormonal levels and not just by growth charts because it is not usual for children to have growth spurts or be hairy.
The screening would began with relatively simple initial screening tests and then proceed to more definitive metyrapone test and the synthetic ACTH stimulation (60-minute cortisol challenge test).
Initial blood screenin would include:
1. 8AM serum cortisol and ACTH levels
2. Serum 17-hydroxyprogesterone (or 17-OHP)
3. Serum 11-desoxycortisol (to check for 11B-hydroxylase deficiency)
4. 17-OH Pregnenoisone (to check for 3-beta dehydrogenase CAH)
There are six different types of CAH (and several other) depending on where the enzymatic block is located...but the first three are the most common.
1. 21 hydroxylase most common (classica and non-classical)
2. 11 beta hydroxylase
3. 3-beta hydroxysteroid dehydrogenase
4. 17-hydroxylase
5. 20-hydroxylase
6. 18-hydroxysteroid dehydrogenase