[Congenital adrenal hyperplasia due to blockade of 3-beta-hydroxysteroid dehydrogenase]

Five cases of congenital 3 beta-hydroxysteroid deshydrogenase deficiency in children are reported: four boys with perineal posterior hypospadias and one girl with clitoromegaly. The salt losing syndrome was clinically overt in only three patients. The main biological character was the very high level of plasma dehydroepiandrosterone (DHA) with an elevated DHA/delta 4 androstenedione ratio. The 17 alpha-OH progesterone, though in normal biosynthesis of glucocorticoids being produced beyond the enzymatic block, was raised, but this apparently paradoxical observation may assist making the diagnosis. Deficient production of testosterone was demonstrated in the prepubertal boys by absence of postnatal rise in plasma testosterone or a decreased reponse of plasma testosterone to chorionic gonadotrophin. It is concluded that deficiency of 3 beta-hydroxysteroid deshydrogenase, now easily recognizable with the use of plasma steroids radioimmunoassay, is probably less rare than was apparent with the use of urinary steroid estimations.