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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 ...
Nutritional marginal zinc deficiency disrupts placental 11β-hydroxysteroid dehydrogenase type 2 modulation
(Royal Society of Chemistry, 2016-01)
This paper investigated if marginal zinc nutrition during gestation could affect fetal exposure to glucocorticoids as a consequence of a deregulation of placental 11βHSD2 expression. Placenta 11β-hydroxysteroid dehydrogenase ...
Mutation of HSD3B2 Gene and Fate of Dehydroepiandrosterone
(Elsevier Academic Press Inc, 2018-01)
3βHSD2 enzyme is crucial for adrenal and gonad steroid biosynthesis. In enzyme deficiency states, due to recessive loss-of-function HSD3B2 mutations, steroid flux is altered and clinical manifestations result. Deficiency ...
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 ...