Aldosterone Synthesis in Salt-Wasting Congenital Adrenal Hyperplasia with Complete Absence of Adrenal 21-Hydroxylase
- 17 January 1991
- journal article
- research article
- Published by Massachusetts Medical Society in New England Journal of Medicine
- Vol. 324 (3) , 145-149
- https://doi.org/10.1056/nejm199101173240302
Abstract
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency is a disorder of cortisol and aldosterone biosynthesis that results from mutations in the CYP21 gene encoding the adrenal 21-hydroxylase P-450c21. It can cause severe salt wasting in newborns that requires long-term treatment with glucocorticoids and mineralocorticoids. We describe a spontaneous partial recovery from this disorder in a 19-year-old woman who had discontinued treatment.Keywords
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