Amniotic fluid contains an abundant supply of steroidal sulfates that can serve as substrates for these biosynthetic enzymes, including DHEAS, 16-OH-DHEAS, pregnenolone, and 16 α -OH-P 5 S ( Schindler and Siiteri, 1968 ). Furthermore, the pattern of steroids found in amniotic fluid derived from fetal urine appears to closely reflect fetal adrenal secretory activity ( Sippell et al ., 1981 ). Most individuals worldwide with CAH have 21-hydroxylase deficiency (80-90%). The incidence of classic 21-hydroxylase deficiency varies by population and ranges from 1 case per 5000-15,000 live births to as high as 1 case per 300-700 births in Alaskan Yupik Eskimos. The next most common type of CAH, 11-beta-hydroxylase deficiency, has an incidence of about 1 in 100,000 persons. Less than 5% of all patients worldwide with CAH have 3-beta–hydroxysteroid dehydrogenase deficiency. In one study of 81 children with ambiguous genitalia, only 2 were found to have 3-beta–hydroxysteroid dehydrogenase deficiency.
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