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Article

Two homozygous mutations in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess.

The Journal of clinical endocrinology and metabolism - 1 Jun 2003

Carvajal Cristian A, Gonzalez Alexis A, Romero Damian G, González Angel, Mosso Lorena M, Lagos Elizabeth T, Hevia Maria del P, Rosati Maria P, Perez-Acle Tomás O, Gomez-Sanchez Celso E, Montero Joaquín A, Fardella Carlos E

Abstract excerpt

The human microsomal 11 beta-hydroxysteroid dehydrogenase type 2 (11 beta HSD2) metabolizes active cortisol into cortisone and protects the mineralocorticoid receptor from glucocorticoid occupancy. In a congenital deficiency of 11 beta-HSD2, the protective mechanism fails and cortisol gains inappropriate access to mineralocorticoid receptor, resulting in low-renin hypertension and hypokalemia. In the present...

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PMID: 12788846
DOI: 10.1210/jc.2002-021909

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