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Deborah P. Merke, M.D., and Richard J. Auchus, M.D., Ph.D. Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency. N Engl J Med 2020;383:1248-61.

Abstract: Congenital adrenal hyperplasia (CAH) — one of the most common autosomal recessive disorders — is potentially life-threatening in its classic (severe) form and may be asymptomatic or cause female infertility in its nonclassic (mild) form. The most common type of CAH is 21-hydroxylase deficiency1; for the remainder of this review, CAH indicates CAH due to 21-hydroxylase deficiency.

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