[Biochemical markers of congenital adrenal hyperplasia and impaired steroidogenesis].

The paper deals with the problems In the biochemical diagnosis of congenital adrenal hyperplasia caused mainly by adrenal 21-hydroxylase deficiency. It presents data on the adrenal cortical synthesis of corticosteroids and discusses whether different biochemical markers, including the levels of blood deoxycortisol and those of urinary pregnantriol and pregnantriolone, may be used in neonatal screening and later diagnosis of congenital adrenal hyperplasia.