title: Siblings of 21-hydroxylase deficiency (non-salt-losing) with aldosterone hypersecretion.
abstract: We describe siblings with the non-salt-losing form of 21-hydroxylase deficiency who had hypersecretion of aldosterone and plasma renin activity (PRA). Blood pressure and serum electrolytes in both cases were normal despite the aldosterone hypersecretion. Aldosterone secretion was elevated markedly with ACTH administration and with sodium deprivation and/or volume depletion during ACTH suppression by dexamethasone. With suppression by dexamethasone, aldosterone hypersecretion was decreased with lowering of the steroids proximal to the block in the biosynthetic pathway. However, urinary sodium excretion was decreased. These results suggest that the biosynthetic pathway for aldosterone production was preserved. Furthermore, aldosterone hypersecretion and high PRA may serve to compensate for the sodium loss which results in turn from the overproduction of the sodium-losing steroids, such as progesterone and 17 alpha-hydroxyprogesterone which are aldosterone antagonists.
authors.affiliation: First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Kitakyushu, Japan.
authors.forename: I
authors.initials: I
authors.lastname: Morimoto
authors.forename: S
authors.initials: S
authors.lastname: Yamamoto
authors.forename: H
authors.initials: H
authors.lastname: Tateishi
authors.forename: S
authors.initials: S
authors.lastname: Ueda
authors.forename: Y
authors.initials: Y
authors.lastname: Toda
authors.forename: K
authors.initials: K
authors.lastname: Zeki
authors.forename: K
authors.initials: K
authors.lastname: Watanabe
authors.forename: Y
authors.initials: Y
authors.lastname: Nakano
authors.forename: M
authors.initials: M
authors.lastname: Kashimura
authors.forename: S
authors.initials: S
authors.lastname: Eto
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology*; D000324:Adrenocorticotropic Hormone / Q000378:metabolism; D000328:Adult; D000450:Aldosterone / Q000378:metabolism*; D003907:Dexamethasone / Q000627:therapeutic use; D005260:Female; D006801:Humans; D012083:Renin / Q000097:blood; D012965:Sodium Chloride / Q000378:metabolism; D012982:Sodium, Dietary / Q000008:administration & dosage; D013255:Steroid 21-Hydroxylase / Q000235:genetics
chemical_list: D012982:Sodium, Dietary; D012965:Sodium Chloride; D000450:Aldosterone; D003907:Dexamethasone; D000324:Adrenocorticotropic Hormone; D013255:Steroid 21-Hydroxylase; D012083:Renin