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Syndrome of apparent mineralocorticoid excess — Clinical Guidelines

Overview

Syndrome of apparent mineralocorticoid excess (AME) is a rare disorder characterized by hypertension, hypokalemia, and metabolic alkalosis due to impaired cortisol metabolism, leading to cortisol acting as an unopposed mineralocorticoid. 1 5

Diagnosis

Clinical Features: Hypertension, hypokalemia, metabolic alkalosis, low plasma renin activity (PRA), and low aldosterone levels. 1 2

Biochemical Tests: Elevated urinary tetrahydrocortisol (THF) and allotetrahydrocortisol (aTHF) to tetrahydrocortisone (THE) ratio. 2

Genetic Testing: Mutations in the HSD11B2 gene, particularly at codon 213, are indicative. 4

Dexamethasone Response: Suppression of cortisol can improve hypokalemia and hypertension, supporting cortisol as the functioning mineralocorticoid. 5

Management

First-Line Treatment: Dexamethasone to suppress cortisol, improving hypokalemia and hypertension. 5

Adjunctive Therapy: Spironolactone may not fully correct hypertension; amiloride can help with hypokalemia. 6

Hydrocortisone Administration: In some cases, controlled hydrocortisone administration can exacerbate symptoms, highlighting the need for careful monitoring. 7

Special Populations

Pediatrics: Early diagnosis is crucial to prevent renal sequelae like nephrocalcinosis and renal cysts. 2

Genetic Considerations: Inbred populations like Mennonites may have higher prevalence of mild AME due to specific gene mutations (e.g., P227L). 3

Key Recommendations

Detailed Anamnesis for Diagnosis: Essential for identifying potential licorice abuse or genetic predispositions. (Evidence: Moderate 1)

Measure Urinary Cortisol Metabolites: Elevated THF/aTHF to THE ratio confirms AME diagnosis. (Evidence: Moderate 2)

Use Dexamethasone for Symptom Management: Effective in suppressing cortisol effects and improving clinical manifestations. (Evidence: Strong 5)

Monitor for Renal Complications: Especially in pediatric patients to prevent nephrocalcinosis and renal cysts. (Evidence: Moderate 2)

Consider Genetic Testing: Particularly for codon 213 mutations in HSD11B2 gene in suspected cases. (Evidence: Moderate 4)

References

1 Bisogni V, Rossi GP, Calò LA. Apparent mineralcorticoid excess syndrome, an often forgotten or unrecognized cause of hypokalemia and hypertension: case report and appraisal of the pathophysiology. Blood pressure 2014. link 2 Moudgil A, Rodich G, Jordan SC, Kamil ES. Nephrocalcinosis and renal cysts associated with apparent mineralocorticoid excess syndrome. Pediatric nephrology (Berlin, Germany) 2000. link 3 Ugrasbul F, Wiens T, Rubinstein P, New MI, Wilson RC. Prevalence of mild apparent mineralocorticoid excess in Mennonites. The Journal of clinical endocrinology and metabolism 1999. link 4 Rogoff D, Smolenicka Z, Bergadá I, Vallejo G, Barontini M, Heinrich JJ et al.. The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. The Journal of clinical endocrinology and metabolism 1998. link 5 Tedde R, Pala A, Melis A, Ulick S. Evidence for cortisol as the mineralocorticoid in the syndrome of apparent mineralocorticoid excess. Journal of endocrinological investigation 1992. link 6 Harinck HI, van Brummelen P, Van Seters AP, Moolenaar AJ. Apparent mineralocorticoid excess and deficient 11 beta-oxidation of cortisol in a young female. Clinical endocrinology 1984. link 7 Oberfield SE, Levine LS, Carey RM, Greig F, Ulick S, New MI. Metabolic and blood pressure responses to hydrocortisone in the syndrome of apparent mineralocorticoid excess. The Journal of clinical endocrinology and metabolism 1983. link

Syndrome of apparent mineralocorticoid excess