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

Horm Res. 1999;52(6):298-300. doi: 10.1159/000023500.

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.

Publication types

  • Case Reports

MeSH terms

  • Cytochrome P-450 CYP11B2 / deficiency*
  • Cytochrome P-450 CYP11B2 / genetics*
  • DNA Mutational Analysis
  • Female
  • Heterozygote
  • Homozygote
  • Humans
  • Infant, Newborn
  • Isoenzymes / deficiency
  • Isoenzymes / genetics
  • Mineralocorticoids / deficiency
  • Mutation
  • Nucleic Acid Hybridization
  • Oligonucleotide Probes
  • Polymerase Chain Reaction

Substances

  • Isoenzymes
  • Mineralocorticoids
  • Oligonucleotide Probes
  • Cytochrome P-450 CYP11B2