Clinical, Biochemical, and Genetic Characteristics of &quot;Nonclassic&quot; Apparent Mineralocorticoid Excess Syndrome.

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Abstract

Classical apparent mineralocorticoid excess (AME) is a rare recessive disorder, caused by severe 11β-hydroxysteroid dehydrogenase type 2 enzyme (11β-HSD2) deficiency. AME manifests as low-renin pediatric hypertension, hypokalemia and high cortisol/cortisone (F/E) ratio.

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Journal

Journal ID (iso-abbrev): J Clin Endocrinol Metab

Title: The Journal of clinical endocrinology and metabolism

Publisher: The Endocrine Society

ISSN (Electronic): 1945-7197

ISSN (Print): 0021-972X

Publication date (Electronic): February 01 2019

Volume: 104

Issue: 2

Affiliations

[1 ] Department of Endocrinology, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

[2 ] Center for Genetics and Genomics, School of Medicine, Clínica Alemana-Universidad del Desarrollo, Lo Barnechea, Chile.

[3 ] Millennium Institute on Immunology and Immunotherapy (IMII), Santiago, Chile.

[4 ] Center for Adrenal Disorders, Division of Endocrinology, Diabetes, and Hypertension, Brigham and Women's Hospital and Harvard Medical School, Boston, Massachusetts.

[5 ] Department of Clinical Laboratories, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

[6 ] Facultad de Medicina y Ciencia, Universidad San Sebastián, Campus Los Leones, Santiago, Chile.

[7 ] Endocrinology Pediatrics Division, School of Medicine, Pontificia Universidad Católica de Chile, Santiago, Chile.

Article

Publisher Item ID: 5096788

DOI: 10.1210/jc.2018-01197

PubMed ID: 30239803

SO-VID: 446e0627-2426-42f9-a47e-c4e754fb98eb

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Clinical, Biochemical, and Genetic Characteristics of "Nonclassic" Apparent Mineralocorticoid Excess Syndrome.

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