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Apparent mineralocorticoid excess syndrome: report of one family with three affected children

  • Taiba Al-Harbi und Adnan Al-Shaikh EMAIL logo
Veröffentlicht/Copyright: 11. Oktober 2012

Abstract

The syndrome of apparent mineralocorticoid excess (AME) is an autosomal recessive disorder characterized by hypertension, hypokalemia, low renin, and hypoaldosteronism. It is caused by deficiency of 11β-hydroxysteroid dehydrogenase, which results in a defect of the peripheral metabolism of cortisol to cortisone. As a consequence, the serum cortisol half-life (T½) is prolonged, ACTH is suppressed, and serum cortisol concentration is normal. The hormonal diagnosis of the disorder is made by the increased ratio of urine-free cortisol to cortisone. In patients with AME, this ratio is 5–18, while in normal individuals it is <0.5. These studies suggest that an abnormality in cortisol action or metabolism results in cortisol behaving as a potent mineralocorticoid and causing the syndrome of AME. We report three siblings – two female and one male – with the syndrome of apparent mineralocorticoid excess who presented with hypertension, hypokalemia, low renin, and low aldosterone levels. The finding of abnormally high ratios of 24-h urine-free cortisol to cortisone in our three patients (case 1, 8.4; case 2, 25; and case 3, 7.5) confirmed the diagnosis of apparent mineralocorticoid excess syndrome in these children. They were treated with oral potassium supplements. The addition of spironolactone resulted in a decrease in blood pressure, rise in serum potassium and a gradual increase in plasma renin activity in all three. In this study, the genetic testing of those three siblings with the typical clinical features of AME has detected missense mutation c.662C>T (p.Arg208Cys) in exon 3 of the HSD11B2 gene in the homozygous state.


Corresponding author: Adnan Al-Shaikh, KAMC – Jeddah, Jeddah 50188, Jeddah 21325, Kingdom of Saudi Arabia; King Abdul Aziz Medical City (KAMC)– Jeddah – Pediatric, Jeddah 9515, Jeddah 214, Kingdom of Saudi Arabia

Received: 2012-4-9
Accepted: 2012-8-17
Published Online: 2012-10-11
Published in Print: 2012-12-01

©2012 by Walter de Gruyter Berlin Boston

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