title: Genetics of primary aldosteronism.
abstract: 1. In 1991 we described a familial variety of primary hyperaldosteronism which was not glucocorticoid-suppressible and was associated with adenoma formation, and called it familial hyperaldosteronism type II (FH-II) in order to distinguish it from the glucocorticoid-suppressible variety described in 1966, familial hyperaldosteronism type I (FH-I). 2. In 1992 the genetic basis of FH-I was clarified by description of a hybrid gene. 3. Primary aldosteronism due to bilateral adrenocortical hyperplasia or to aldosterone-producing tumour can be part of the multiple endocrine neoplasia type I syndrome (MEN I), in which loss of heterozygosity has been described on chromosome 11q13. Loss of heterozygosity at the MEN I locus was found in five of 26 aldosterone-producing tumours from our series (by Japanese collaborators). These included two with adrenal cancer and two with FH-II. 4. We recently described an association of aldosterone responsiveness of aldosterone-producing adenomas with renin gene restriction fragment length polymorphisms, suggesting a possible role for renin genotype and intra-adrenal renin gene expression in the development and biochemical expression of some aldosterone-producing tumours. 5. We found abnormal karyotypes in 13 of 32 benign aldosterone-producing adenomas.
authors.affiliation: Hypertension Unit, Greenslopes Hospital, Brisbane, Australia.
authors.forename: R D
authors.initials: RD
authors.lastname: Gordon
authors.forename: S A
authors.initials: SA
authors.lastname: Klemm
authors.forename: T J
authors.initials: TJ
authors.lastname: Tunny
authors.forename: M
authors.initials: M
authors.lastname: Stowasser
mesh_terms: D005190:Family; D006801:Humans; D006929:Hyperaldosteronism / Q000235:genetics*; D007621:Karyotyping; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000235:genetics; D012150:Polymorphism, Restriction Fragment Length; D012083:Renin / Q000235:genetics
chemical_list: D012083:Renin