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A Novel Form of Human Mendelian Hypertension Featuring Nonglucocorticoid-Remediable Aldosteronism
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CONTEXT: Primary aldosteronism is a leading cause of secondary hypertension (HTN), but the mechanisms underlying the characteristic renin-independent secretion of aldosterone remain unknown in most patients. OBJECTIVES: We report a new familial form of aldosteronism in a father and two daughters. All were diagnosed with severe HTN refractory to medical treatment by age 7 yr. We performed a variety of clinical, biochemical, and genetic studies to attempt to clarify the underlying molecular defect. RESULTS: Biochemical studies revealed hyporeninemia, hyperaldosteronism, and very high levels of 18-oxocortisol and 18-hydroxycortisol, steroids that reflect oxidation by both steroid 17-alpha hydroxylase and aldosterone synthase. These enzymes are normally compartmentalized in the adrenal fasciculata and glomerulosa, respectively. Administration of dexamethasone failed to suppress either aldosterone or cortisol secretion; these findings distinguish this clinical syndrome from glucocorticoid-remediable aldosteronism, another autosomal dominant form of HTN, and suggest a global defect in the regulation of adrenal steroid production. Genetic studies excluded mutation at the aldosterone synthase locus, further distinguishing this disorder from glucocorticoid-remediable aldosteronism. Because of unrelenting HTN, all three subjects underwent bilateral adrenalectomy, which in each case corrected the HTN. Adrenal glands showed dramatic enlargement, with paired adrenal weights as high as 82 g. Histology revealed massive hyperplasia and cellular hypertrophy of a single cortical compartment that had features of adrenal fasciculata or a transitional zone, with an atrophic glomerulosa. CONCLUSION: These findings define a new inherited form of aldosteronism and suggest that identification of the underlying defect will provide insight into normal mechanisms regulating adrenal steroid biosynthesis.
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“These metabolites are often referred to as “hybrid steroids” as they require enzymatic machinery from both the glucocorticoid and mineralocorticoid pathways [[261], [262], [263]].”
From Human steroid biosynthesis, metabolism and excretion are differentially reflected by serum and urine steroid metabolomes: a comprehensive review (2019) · cites this paper as [263]
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“As a consequence, urinary excretion of 18OHTHA and THAldo is low whereas corticosterone metabolites are high [Fig. 6 (50, 112–124)].”
From Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism (2019) · cites this paper as [113]
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“Serum and urinary 18-hydroxycortisol, 18-oxocortisol, and 18-oxo-THF excretion are highest in FHA type 1 (= GRA, see “Glucocorticoid-remediable aldosteronism” above) (124, 173) and FHA type 3 (germline KCNJ5 mutations) (113); they also tend to be higher in APA than in bilateral hyperaldosteronism, albeit with considerable overlap (115).”
From Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism (2019) · cites this paper as [113]
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Metadata
- Authors
- Geller, D. S., Zhang, J., Wisgerhof, M. V., Shackleton, C., Kashgarian, M., & Lifton, R. P.
- Affiliations
- Howard Hughes Medical Institute (US)
- Henry Ford Hospital (US)
- Corresponding author
- Geller, David S.
- Venue
- The Journal of Clinical Endocrinology & Metabolism
- Publisher
- The Endocrine Society
- Published
- 2008-08
- Volume
- 93
- Issue
- 8
- Pages
- 3117-3123
- ISSN
- 0021-972X (ISSN-L)
- 1945-7197
- PMC
- PMC2515083
- OpenAlex
- W2154788287
- Cited by
- 296
- References
- 24
- Citations by year
- 2026: 8 · 2025: 7 · 2024: 11 · 2023: 25 · 2022: 16 · 2021: 11 · 2020: 17 · 2019: 21 · 2018: 19 · 2017: 20 · 2016: 26 · 2015: 22 · 2014: 18 · 2013: 20 · 2012: 25
- FWCI
- 7.26
- Type
- journal article
- Language
- en
- Open access
- bronze
- doi.org
- Locations
- The Journal of Clinical Endocrinology & Metabolism (publishedVersion)
- Europe PMC (PubMed Central) (publishedVersion)
- PubMed Central (publishedVersion)
- PubMed (publishedVersion)
- University of Birmingham Research Portal (University of Birmingham) (submittedVersion)
- Funders
- Howard Hughes Medical Institute
- Yale University
- National Institutes of Health
- Raymond and Beverly Sackler Institute for Biological, Physical and Engineering Sciences, Yale University
- Topics
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Hormonal Regulation and Hypertension
- Health Sciences › Medicine › Cardiology and Cardiovascular Medicine › Renin-Angiotensin System Studies
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Adrenal Hormones and Disorders
- Keywords
- familial hypertension, primary aldosteronism, secondary hypertension, 18-oxocortisol, 18-hydroxycortisol, aldosterone synthase, adrenal hyperplasia, adrenal cortex, glucocorticoid-remediable aldosteronism, bilateral adrenalectomy, adrenal steroidogenesis, autosomal dominant inheritance
- MeSH terms
- Adolescent, Adrenal Glands, Child, Child, Preschool, Female, Glucocorticoids, Humans, Hydrocortisone, Hyperaldosteronism, Hypertension, Male, Pedigree, Renin, Steroid 11-beta-Hydroxylase, Cytochrome P-450 CYP11B2
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