Elevated 17-Hydroxyprogesterone and Testosterone in a Newborn with 3-Beta-Hydroxysteroid Dehydrogenase Deficiency

Congenital adrenal hyperplasia is the most frequent cause of ambiguous genitalia and adrenal insufficiency in newborn infants. The diagnosis of the specific enzyme deficiency resulting in the condition is based on finding an elevation of the serum and urinary concentrations of the steroid precursors that precede the enzyme defect. Thus, the diagnosis of 21-hydroxylase deficiency is based on finding elevated concentrations of serum 17-hydroxyprogesterone and urinary pregnanetriol levels, whereas a deficiency of 11-hydroxylase or of 3-beta-hydroxysteroid dehydrogenase (3-β-HSD) is diagnosed by the finding of elevated serum concentrations of 11-deoxycortisol or 17-hydroxypregnenolone, respectively (Fig. 1).1 Because of the limited availability of…