I live in Northern Virginia... (in the Washington DC area).  Call me if you want ... 703-697-7357 at work; 703-370-4611.  I think that genetic testing would be a good idea and the NIH.  I take my boys to the NIH.  My regular ped doctor is wonderful. Who is your ped endo? I have two boys with CAH and a new baby (will be one year old on 2 Aug - does not have CAH).

Most doctors are familiar with the classical (salt wasting) and the non-classical 21-hydroxylase deficiency because it causes virilization in the female infant.

In the 3-beta hydroxylase deficiency - there isa a decreased synthesis of mineralocorticiods, glucocorticoids and incomplete sex hormone synthesis.  The deficiency occurs in both the adrenal glands and the testis or ovaries.  Females may have clitoromegaly and/or early development of pubic hair. Males may have incomplete masculinization. The decreased production of testosterone causes the male to have incomplete masculinization.

Did they test the blood for the following to tell which kind of CAH (or did they decide it was 3-beta because the testosterone was low and there was some reason they say something wrong with the ovaries? ):

17-OH Pregnenolone (this is specifically for 3-beta)

Plasma Renin

Testosterone, DHEA, Androstenedione

Andrenocorticotrophic hormones (17-OHP)

Chem 8 - sodium, sugar, etc

Urine:

sodium

1-oxosterioids

Pregnanertiol (high in 21-OH deficiency

17-Ketosteriod