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Horm Res. 1999;52(6):298-300.

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

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  • 1Pediatric Endocrinology, Hospital Materno-Infantil, Málaga, Spain. jpls@arrakis.es

Abstract

Two female infants with clinical and biochemical findings of mineralocorticoid deficiency are presented. Both cases were diagnosed with aldosterone synthase type-I 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 one heterozygous stop mutation (Y265X) in case 2.

Copyright 2000 S. Karger AG, Basel

PMID:
10965212
[PubMed - indexed for MEDLINE]
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