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Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess

B I Cerame1, M I New

  • 1Department of Pediatrics, New York-Presbyterian Hospital and the Weill Medical College of Cornell University, NY 10021, USA.

Journal of Pediatric Endocrinology & Metabolism : JPEM
|January 12, 2001
PubMed

Insights

Genetic defects in adrenal enzymes cause hypertension by disrupting hormone regulation. This study examines 11beta-hydroxylase deficiency and apparent mineralocorticoid excess, two forms of steroid-dependent low-renin hypertension.

Area of Science:

  • Endocrinology
  • Genetics
  • Cardiovascular Medicine

Background:

  • Hypertension is influenced by hormones affecting cardiac output, intravascular volume, and peripheral resistance.
  • Adrenal enzymatic abnormalities can lead to steroid-dependent hypertension.
  • Two key genetic disorders discussed are 11beta-hydroxylase deficiency and apparent mineralocorticoid excess.

Purpose of the Study:

  • To examine two steroid-dependent forms of genetic low-renin hypertension: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess.
  • To elucidate the mechanisms by which these genetic defects lead to hypertension and associated symptoms.

Main Methods:

  • Review of literature on adrenal enzymatic abnormalities and hypertension.
  • Analysis of the genetic basis and biochemical pathways involved in 11beta-hydroxylase deficiency (CYP11B1 gene).
  • Analysis of the genetic basis and biochemical pathways involved in apparent mineralocorticoid excess (HSD11B2 gene).

Main Results:

  • 11beta-hydroxylase deficiency results in increased 11-deoxycorticosterone (DOC) production, causing sodium retention, volume expansion, and hypertension, along with virilization due to excess androgens.
  • Apparent mineralocorticoid excess, caused by HSD11B2 mutations, leads to severe juvenile hypertension, growth failure, and electrolyte imbalances (low potassium, renin, aldosterone).

Conclusions:

  • Genetic defects in specific adrenal enzymes are significant causes of low-renin hypertension.
  • Understanding these disorders aids in diagnosing and managing hypertension related to adrenal enzymatic abnormalities.

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