Aldosterone synthase deficiency type I: Hormonal and genetic analyses of two cases

Authors
Lopez-Siguero, JP Garcia-Garcia, E Peter, M Sippell, WG
Citation
Jp. Lopez-siguero et al., Aldosterone synthase deficiency type I: Hormonal and genetic analyses of two cases, HORMONE RES, 52(6), 1999, pp. 298-300
Citations number
16
Categorie Soggetti
Endocrinology, Nutrition & Metabolism
Journal title
HORMONE RESEARCH
ISSN journal
03010163 → ACNP
Volume
52
Issue
6
Year of publication
1999
Pages
298 - 300
Database
ISI
SICI code
0301-0163(1999)52:6<298:ASDTIH>2.0.ZU;2-E
Abstract
Two female infants with clinical and biochemical findings of mineralocortic oid deficiency are presented. Both cases were diagnosed with aldosterone sy nthase type-1 deficiency by multisteroid analysis, Two different mutations were located in the CYP11B2 gene: two homozygous amino acid substitutions ( E188D and V386A) in case 1, and one heterozygous substitution (L324Q) and o ne heterozygous stop mutation (Y265X) in case 2, Copyright (C) 2000 S. Karg er AG, Basel.