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Aldosterone synthase deficiency type I: hormonal and genetic analyses of two cases
J P López-Siguero1, E García-García, M Peter
1Pediatric Endocrinology, Hospital Materno-Infantil, Málaga, Spain. jpls@arrakis.es
Hormone Research
|August 31, 2000
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.