ArticleJournal of hypertension2019
A novel mutation in the glucocorticoid receptor gene as a cause of severe glucocorticoid resistance complicated by hypertensive encephalopathy.
Article in Journal of hypertension, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 20 citations in OpenAlex.
- A novel pathogenic variant of the glucocorticoid receptor gene, causing generalized glucocorticoid resistance: a case report and review of the literature.Hormones (Athens, Greece) · 2025Review
- Novel target identification towards drug repurposing based on biological activity profiles.PloS one · 2025Article
- Diagnosis and management of non-CAH 46,XX disorders/differences in sex development.Frontiers in endocrinology · 2024Review
- Glucocorticoids, their uses, sexual dimorphisms, and diseases: new concepts, mechanisms, and discoveries.Physiological reviews · 2024Review
- Functional and Structural Impact of Deleterious Missense Single Nucleotide Polymorphisms in the NR3C1, CYP3A5, and TNF-α Genes: An In Silico Analysis.Biomolecules · 2022Article
- Role of glucocorticoid receptor mutations in hypertension and adrenal gland hyperplasia.Pflugers Archiv : European journal of physiology · 2022Review
- Salt-Sensitive Hypertension in GRInternational journal of molecular sciences · 2021Article
- Hypoglycemia, Vascular Disease and Cognitive Dysfunction in Diabetes: Insights from Text Mining-Based Reconstruction and Bioinformatics Analysis of the Gene Networks.International journal of molecular sciences · 2021Article
- Primary Generalized Glucocorticoid Resistance and Hypersensitivity Syndromes: A 2021 Update.International journal of molecular sciences · 2021Review
- A Novel Pathogenic Variant in the N-Terminal Domain of the Glucocorticoid Receptor, Causing Glucocorticoid Resistance.Molecular diagnosis & therapy · 2020Article
- Overview of Monogenic Forms of Hypertension Combined With Hypokalemia.Frontiers in pediatrics · 2020Review
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7 authors at 2 institutions in 1 country.
Funding
Abstract
backgroundGlucocorticoid resistance syndrome (GRS) is caused by mutations of the glucocorticoid receptor (coded by the NR3C1 gene) and presents with signs of mineralocorticoid and/or androgen excess. PATIENT: A female patient presented at the age of almost 3 years with hypertensive and hypoglycemic seizure. She was diagnosed with GRS and was treated with antihypertensive medications and dexamethasone. She was later found to have MRI findings of punctuate microinfarcts at the basal ganglia, left thalamus and pons, possibly associated with uncontrolled hypertension. Increase of the dexamethasone dose up to 14 mg/day resulted in sufficient control of her symptoms.
resultsTwo mutations in the NR3C1 gene were identified: a novel mutation in exon 2 (p.E198X), and a previously described mutation in exon 8 (p.R714Q).
conclusionGRS may present with life-threatening complications; this is the first report of hypertensive encephalopathy in association with GRS. Successful management of patients might require high doses of dexamethasone to control blood pressure.
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