Horm Metab Res 2012; 44(12): 867-878
DOI: 10.1055/s-0032-1321851
Review
© Georg Thieme Verlag KG Stuttgart · New York

11Beta-Hydroxylase Deficiency and Other Syndromes of Mineralocorticoid Excess as a Rare Cause of Endocrine Hypertension

E. Melcescu
1   Division of Endocrinology, Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA
,
J. Phillips
1   Division of Endocrinology, Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA
,
G. Moll
2   Division of Pediatric Endocrinology, Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA
,
J. Subauste
1   Division of Endocrinology, Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA
3   GV (Sonny) Montgomery VA Medical Center, Jackson, MS, USA
,
C. A. Koch
1   Division of Endocrinology, Department of Medicine, University of Mississippi Medical Center, Jackson, MS, USA
3   GV (Sonny) Montgomery VA Medical Center, Jackson, MS, USA
› Author Affiliations
Further Information

Publication History

received 04 May 2012

accepted 25 June 2012

Publication Date:
29 August 2012 (online)

Abstract

Hypertension represents a major public and global health problem, most of which likely can be improved by lifestyle changes including changing dietary habits with less consumption of processed and preserved foods, which generally contain higher amounts of salt than freshly prepared food items. Among causes for endocrine hypertension are syndromes of mineralocorticoid excess. This group of mostly monogenic and acquired disorders typically causes hypertension through activation of the mineralocorticoid receptor either directly or indirectly via hormonal mediators and from overactive amiloride-sensitive epithelial sodium channels located in the distal tubule and collecting ducts of the kidneys. Apart from primary aldosteronism, mineralocorticoid excess can be caused by congenital adrenal hyperplasia (CAH) due to mutations of the 11beta-hydroxylase and 17alpha-hydroxylase genes, by inactivating mutations of the glucocorticoid receptor gene (Chrousos syndrome), endogenous hypercortisolism (Cushing’s syndrome), by mutations of the 11beta-hydroxysteroid dehydrogenase type 2 gene (apparent mineralocorticoid excess/AME) or licorice/carbenoxolone intake, mutations of the epithelial sodium channel genes (Liddle syndrome), mutations of the mineralocorticoid receptor gene (Geller syndrome), and by mutations in the WNK1, WNK4, KLHL3, CUL3 genes (pseudohypoaldosteronism type 2 or Gordon syndrome). Most of these conditions are treated by restricting dietary salt intake. However, some require special therapies including dexamethasone/hydrocortisone (CAH), spironolactone/eplerenone (AME), epithelial sodium channel inhibitors amiloride/triamterene (Liddle and Gordon syndrome), while in others spironolactone and MR antagonists may be contraindicated due to an abnormally structured MR (Geller syndrome). We here review the pathophysiology, diagnosis, and therapy of these rare conditions including the presentation of a patient with 11beta-hydroxylase deficiency.