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Clinical, Biochemical, and Genetic Characteristics of “Nonclassic” Apparent Mineralocorticoid Excess Syndrome
(Oxford University Press, 2019)
Context
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, ...
Apparent Mineralocorticoid Excess Syndrome in a Brazilian Boy Caused by the Homozygous Missense Mutation p.R186C in the HSD11B2 Gene
(Sbem-soc Brasil Endocrinologia & Metabologia, 2008-11-01)
The apparent mineralocorticoid excess syndrome (AME) is a rare autosomal recessive disorder due to the deficiency of 11 beta-hydroxysteroid dehydrogenase type 2 enzyme (11beta-HSD2). The 11beta-HSD2 enzyme, encoded by ...
Downregulation of exosomal miR-192-5p and miR-204-5p in subjects with nonclassic apparent mineralocorticoid excess.
(2019)
Abstract
Background
The “nonclassic” apparent mineralocorticoid excess (NC-AME) has been identified in approximately 7% of general population. This phenotype is characterized ...
Classic and nonclassic apparent mineralocorticoid excess syndrome
(Endocrine Society, 2020)
© 2020 Endocrine Society. All rights reserved.Context: Arterial hypertension (AHT) is one of the most frequent pathologies in the general population. Subtypes of essential hypertension characterized by low renin levels ...
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 geneSíndrome de excesso aparente de mineralocorticóide em um menino brasileiro causada pela mutação p.R186C em homozigose no gene HSD11B2
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)
Regulación de la enzima 11 beta hidroxiesteroide deshidrogenasa tipo 2 [11ß-HSD2] por miRNA y su asociación con hipertensión arterial
(Universidad del Desarrollo. Facultad de Medicina, 2018)
Classical apparent mineralocorticoid excess (AME) is a rare recessive disorder, caused by 11β-HSD2 deficiency. AME manifests as low-renin pediatric hypertension, hypokalemia and high cortisol/cortisone (F/E) ratio. The ...
Serum cortisol and cortisone as potential biomarkers of partial 11 beta-hydroxysteroid dehydrogenase type 2 deficiency
(2018)
BACKGROUND Pathogenic variations in HSD11B2 gene triggers the apparent mineralo-corticoid excess syndrome (AME). There is scarce information regarding the phenotypes of subjects carrying heterozygous pathogenic variants ...
Serum Cortisol and Cortisone as Potential Biomarkers of Partial 11β-Hydroxysteroid Dehydrogenase Type 2 Deficiency
(2018)
Background: Pathogenic variations in HSD11B2 gene triggers the apparent mineralocorticoid excess syndrome (AME). There is scarce information regarding the phenotypes of subjects carrying heterozygous pathogenic variants ...