FaCD Online Syndrome Fact Sheet

Last updated: 19 Mar 2008

Name: Familial Hyperaldosteronism type I

Synonym: Dexamethasone Sensitive Aldosteronism, FH-I

Mode of Inheritance: AD

Genes

CYP11B1/2, mapped to 8q21

Tumor features

adrenal adenoma

Non-tumor features

adrenal hyperplasia

Comment

Familial hyperaldosteronism type 1 is an autosomal dominant disorder characterized by hypertension due to dexamethasone-sensitive-hyperaldosteronism, frequently leading to early death from stroke. Adrenal glands show hyperplasia and adenomas. Clinical diagnosis is facilitated by testing for the molecular cause of the disorder: a hybrid gene resulting from unequal cross-over between CYP11B1(coding for 11-beta-hydroxylase) and CYP11B2 (coding for aldosteron synthase). [1-6].

References

[1] Gordon RD, Stowasser M. Familial forms broaden the horizons for primary aldosteronism. Trends.Endocrinol.Metab. 9[6], 220-227. 1998.
[2] Stowasser M, Bachmann AW, Jonsson JR, Tunny TJ, Klemm SA, Gordon RD. Clinical, biochemical and genetic approaches to the detection of familial hyperaldosteronism type 1. J Hypertens 1995; 13:1610-1613.
[3] Jeunemaitre X, Charru A, Pascoe L, Guyene TT, Aupetit-Faisant B, Shackleton CHL, Schambelan M, Plouin PF, Corvol P. Hyperaldosteronisme sensible a la dexamethasone avec adenome surrenalien: etude clinique,biologique et genetique. Presse Med 1995; 24:1243-1248.
[4] Connell JMC, Inglis GC, Jamieson A. Dexamethasone-suppressible hyperaldosteronism: clinical, biochemical and genetic relations. J Hum Hypertens 1995; 9:505-509.
[5] Stowasser M, Gordon RD. Familial hyperaldosteronism. The Journal of steroid biochemistry and molecular biology 2001; 78(3):215-29.
[6] Jackson RV, Lafferty A, Torpy DJ, Stratakis C. New genetic insights in familial hyperaldosteronism. Annals of the New York Academy of Sciences 2002; 970():77-88.