Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency
- 27 December 1990
- journal article
- review article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 323 (26) , 1806-1813
- https://doi.org/10.1056/nejm199012273232605
Abstract
CONGENITAL adrenal hyperplasia due to 21-hydroxylase deficiency is a relatively common genetic disorder. On the basis of worldwide screening programs, the incidence has been calculated to be approximately 1 per 14,000 births.1 Despite impressive advances in treatment and in our understanding of the molecular events that cause congenital adrenal hyperplasia,2 3 4 5 patients with this disorder continue to have problems that reflect the inadequacy of current treatment.6 7 8 9 10 11 12 13 14 15 The response to treatment varies, and the excellent response in some patients should not obscure the need to improve treatment outcomes overall. This review addresses five questions concerning the pathophysiology and treatment of congenital adrenal . . .Keywords
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