How can molecular biology contribute to the management of congenital adrenal hyperplasia?

The most common form of congenital adrenal hyperplasia is due to a deficien cy of 21-hydroxylase (210HD) activity and is caused by a mutation in the CY P21 gene. By genotyping patients, new and important information can be gain ed, including presence or absence of 210HD in borderline cases, determining the severity of disease and identifying heterozygote carriers. Current man agement of patients with 210HD involves administering sufficient glucocorti coids to suppress excess adrenal androgen secretion, but not so much that b one growth and mineralization are impaired. New management strategies have been proposed and include administering only substitution doses of corticos teroids and counteracting side-effects by administering an anti-androgen an d aromatase inhibitor. Adrenalectomy has also been proposed. Further invest igation into these approaches is necessary. Copyright (C) 2000 S. Karger AG , Basel.