Disorders of the Aldosterone Synthase and Steroid 11β-Hydroxylase Deficiencies

@article{Peter1999DisordersOT,
  title={Disorders of the Aldosterone Synthase and Steroid 11β-Hydroxylase Deficiencies},
  author={M. Peter and J. M. Dubuis and W. Sippell},
  journal={Hormone Research in Paediatrics},
  year={1999},
  volume={51},
  pages={211 - 222}
}
  • M. Peter, J. M. Dubuis, W. Sippell
  • Published 1999
  • Medicine
  • Hormone Research in Paediatrics
  • The most potent corticosteroids are 11β-hydroxylated compounds. In humans, two cytochrome P450 isoenzymes with 11β-hydroxylase activity, catalysing the biosynthesis of cortisol and aldosterone, are present in the adrenal cortex. CYP11B1, the gene encoding 11β-hydroxylase (P450c11), is expressed on high levels in the zona fasciculata and is regulated by ACTH. CYP11B2, the gene encoding aldosterone synthase (P450c11Aldo), is expressed in the zona glomerulosa under primary control of the renin… CONTINUE READING
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    References

    SHOWING 1-10 OF 87 REFERENCES
    Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency.
    • 154
    • PDF
    Multisteroid analysis in children with terminal aldosterone biosynthesis defects.
    • 26
    Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene.
    • 79
    New studies of the 11 beta-hydroxylase and 18-hydroxylase enzymes in the hypertensive form of congenital adrenal hyperplasia.
    • 8
    Disorders of steroid 11β-hydroxylase isozymes
    • 63
    Amino acid substitution R384P in aldosterone synthase causes corticosterone methyloxidase type I deficiency.
    • 41