Skip to main content
SpringerLink
Log in

Aldosterone Synthase Deficiency

  • Chapter
Adrenal Disorders

Part of the book series: Contemporary Endocrinology ((COE))

  • 218 Accesses

Abstract

Children with congenital hypoaldosteronism present with a salt-wasting syndrome in the first weeks of life. Endocrine causes of salt-wasting can be easily differentiated by determination of aldosterone, cortisol, 17-hydroxyprogesterone, adrenocorticotropic hormone (ACTH), and plasma-renin activity or active renin (Table 1). For the interpretation of these parameters, valid reference data for infants are a prerequisite.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 169.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 249.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 219.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Quinn SL, Williams GH. Regulation of aldosterone secretion. Annu Rev Physiol 1988; 50: 409 - 426.

    Article  PubMed  CAS  Google Scholar 

  2. Ogishima T, Mitani F, Ishimura Y. Isolation of aldosterone synthase cytochrome P-450 from zona glomerulosa mitochondria of rat adrenal cortex. J Biol Chem 1989; 264:10, 935-10, 938.

    Google Scholar 

  3. Yanagibashi K, Haniu M, Shively JE, Shen WH, Hall P. The synthesis of aldosterone by the adrenal cortex. Two zones (fasciculata and glomerulosa) possess one enzyme for 1113-, 18-hydroxylation, and aldehyde synthesis. J Biol Chem 1986; 261: 3556 - 3562.

    PubMed  CAS  Google Scholar 

  4. Miller WL. Molecular biology of steroid hormone biosynthesis. Endocr Rev 1988; 9: 295 - 318.

    Article  PubMed  CAS  Google Scholar 

  5. Kawamoto T, Mitsuuchi Y, Ohnishi T, et al. Cloning and expression of a cDNA for human cytochrome P-450aldo as related to primary aldosteronism. Biochem Biophys Res Commun 1990; 173: 309 - 316.

    Article  CAS  Google Scholar 

  6. Ogishima T, Shibata H, Shimada H, et al. Aldosterone synthase cytochrome P-450 expressed in the adrenals of patients with primary aldosteronism. J Biol Chem 1991; 266:10, 731-10, 734.

    Google Scholar 

  7. Curnow KM, Tusie LM, Pascoe L, et al. The product of the CYP11B2 gene is required for aldosterone biosynthesis in the human adrenal cortex. Mol Endocrinol 1991; 5: 1513 - 1522.

    Article  PubMed  CAS  Google Scholar 

  8. Kawamoto T, Mitsuuchi Y, Toda K, et al. Role of steroid 1113-hydroxylase and steroid 18-hydroxylase in the biosynthesis of glucocorticoids and mineralocorticoids in humans. Proc Natl Acad Sci USA 1992; 89: 1458 - 1462.

    Article  PubMed  CAS  Google Scholar 

  9. White PC, Curnow KM, Pascoe L. Disorders of steroid 1113-hydroxylase isozymes. Endocr Rev. 1994; 15: 421 - 438.

    PubMed  CAS  Google Scholar 

  10. Mornet E, Dupont J, Vitek A, White PC. Characterization of two genes encoding human steroid 110hydroxylase (P-450 1113 ). J Biol Chem 1989; 264:20, 961-20, 967.

    Google Scholar 

  11. Chua SC, Szabo P, Vitek A, Grzeschnik KH, John M, White PC. Cloning of cDNA encoding steroid 1113-hydroxylase (P450c11). Proc Natl Acad USA 1987; 84: 7193 - 7197.

    Article  CAS  Google Scholar 

  12. Taymans SE, Pack S, Pak E, Torpy DJ, Zhuang Z, Stratakis CA Human CYP11B2 (aldosterone synthase) maps to chromosome 8q24.3. J Clin Endocrinol Metab 1998; 83: 1033 - 1035.

    Article  PubMed  CAS  Google Scholar 

  13. Nelson DR, Kamataki T, Waxma DJ, et al. The P450 superfamily: update on new sequences, gene mapping, accession number, early trivial names of enzyme, and nomenclature. DNA Cell Biol 1993; 12: 1 - 55.

    Article  PubMed  CAS  Google Scholar 

  14. Arriza JL, Weinberger C, Cerelli G, et al. Cloning of the human mineralocorticoid receptor complementary DNA: structural and functional kinship with the glucocorticoid receptor. Science 1997; 237: 268 - 275.

    Article  Google Scholar 

  15. Visser HKA, Cost WS. A new hereditary defect in the biosynthesis of aldosterone: urinary C21corticosteroid pattern in three related patients with a salt-losing syndrome, suggesting an 18-oxidation defect. Acta Endocrinol Copenh 1964; 47: 589 - 612.

    PubMed  CAS  Google Scholar 

  16. Degenhart HJ, Frankena L, Visser HKA, Cost WS, van Seters AP. Further investigation of a new hereditary defect in the biosynthesis of aldosterone: evidence for a defect in 18-hydroxylation of corticosterone. Acta Physiol Pharmacol Neerl 1966; 4: 1 - 2.

    Google Scholar 

  17. Ulick S, Gautier E, Vetter KK, Markello JR, Yaffe S, Lowe CU. An aldosterone biosynthetic defect in a salt-Using disorder. J Clin Endocrinol Metab 1964; 24: 669 - 672.

    Article  PubMed  CAS  Google Scholar 

  18. Rappaport R, Dray F, Legrand JC, Royer P. Hypoaldostéronisme congénital familial par défaut de la 18-OH-déhydrogénase. Pediatr Res 1968; 2: 456 - 463.

    Article  PubMed  CAS  Google Scholar 

  19. Ulick S. Diagnosis and nomenclature of the disorders of the terminal portion of the aldosterone biosynthetic pathway. J Clin Endocrinol Metab 1976; 43: 92 - 96.

    Article  PubMed  CAS  Google Scholar 

  20. Ulick S. Correction of the nomenclature and mechanism of the aldosterone biosynthetic defects. J Clin Endocrino Metab 1996; 81: 1299 - 1300.

    Article  CAS  Google Scholar 

  21. Rösler A. The natural history of salt-wasting disorders of adrenal and renal origin. J Clin Endocrinol Metab 1984; 59: 689 - 700.

    Article  PubMed  Google Scholar 

  22. Peter M, Pcrtsch CJ, Sippell WG. Multisteroid analysis in children with terminal aldosterone biosynthesis defects. J Clin Endocrinol Metab 1995; 80: 1622 - 1627.

    Article  PubMed  CAS  Google Scholar 

  23. Peter M, Sippell WG. Congenital hypoaldosteronism: The Visser-Cost syndrome revisited. Pediatr Rev 1996; 39: 554 - 560.

    CAS  Google Scholar 

  24. Ulick S, Wang JZ, Morton DH. The biochemical pheontypes of two inborn errors in the biosynthesis of aldosterone. J Clin Endocrinol Metab 1992; 74: 1415 - 1420.

    Article  PubMed  CAS  Google Scholar 

  25. Sippell WG, Bidlingmaier F, Becker H, et al. Simultaneous radioimmunoassay of plasma aldosterone, corticosterone, 11-deoxycorticosterone, progesterone, 17-hydroxyprogesterone, 11-deoxycortisol, cortisol, and cortisone. J Steroid Biochem 1978; 9: 63 - 67.

    Article  PubMed  CAS  Google Scholar 

  26. Mitsuuchi Y, Kawamoto T, Miyahara K, et al. Congenitally defective aldosterone biosynthesis in humans: Inactivation of the P-450C18 gene (CYP11B2) due to nucleotide deletion in CMO I deficient patients. Biochem Biophys Res Commun 1993; 190: 864 - 869.

    Article  PubMed  CAS  Google Scholar 

  27. Geley S, Rorer K, Peter M, et al Amino acid substitution R384P in aldosterone synthase causes corticosteror e methyloxidase type I deficiency. J Clin Endocrinol Metab 1995; 80: 424 - 429.

    Article  PubMed  CAS  Google Scholar 

  28. Nomoto S, Massa G, Mitani F, et al. CMO I deficiency caused by a point mutation in exon 8 of the human CYP11B2 gene encoding steroid 18-hydroxylase (P450,18). Biochem Biophys Res Commun 1997; 234: 382 - 385.

    Article  PubMed  CAS  Google Scholar 

  29. Peter M, Fawaz L, Drop SLS, Visser HKA, Sippell WG. Hereditary defect in biosynthesis of aldosterone: aldoste-one synthase deficiency 1964-1997. J Clin Endocrinol Metab 1997; 82: 3525 - 3528.

    Article  PubMed  CAS  Google Scholar 

  30. Peter M, Burger K, Drop SLS, Sippell WG. Molecular genetic study in two patients with congenital hypoaldosteronism (types I and II) in relation to previously published hormonal studies. Eur J Endocrinol 1998; 139: 96 - 100.

    Article  PubMed  CAS  Google Scholar 

  31. Portrat-Doyen S, Tourniaire J, Richard J, et al. Isolated aldosterone synthase deficiency caused by simultaneous E198D and V386A mutations in the CYP11B2 gene. J Clin Endocrinol Metab 1998; 83: 4156 - 4161.

    Article  PubMed  CAS  Google Scholar 

  32. Mitsuuchi Y,;Kawamoto T, Rösler A, et al. Congenitally defective aldosterone biosynthesis in humans• the involvement of point mutations of the P-450C18 gene (CYP11B2) in CMO II deficient patients. Biochem Biophys Res Commun 1992; 182: 974 - 979.

    Article  Google Scholar 

  33. Pascoe L, Curnow KM, Slutsker L, Rosier A, White PC. Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. Proc Natl Acad Sci USA 1992; 89: 4996 - 5000.

    Article  PubMed  CAS  Google Scholar 

  34. Zhang G, Rodriguez H, Fardella CE, Harris DA, Miller WL. Mutation T318M in the CYP11B2 gene encoding P450c11AS (aldosterone synthase) causes corticosterone methyl oxidase II. Am J Hum Genet 1995; 5’7:1037-1043.

    Google Scholar 

  35. Peter M, Bürger K, Sólyom J, Sippell WG. Mutation Thr-185 Ile is associated with corticosterone methyl oxidase deficiency type II. Eur J Pediatr 1998; 157: 378 - 381.

    Article  PubMed  CAS  Google Scholar 

  36. Peter M, Nikisc hin W, Heinz-Erian P, Fussenegger W, Kapelari K, Sippell WG. Homozygous deletion of arginine-171 in the CYP11B2 gene in a girl with congenital hypoaldosteronism (corticosterone methyl oxidase deficiency type II). Horm Res 1998; 50: 222 - 225.

    Article  PubMed  CAS  Google Scholar 

  37. Fardella CE, Hum DW, Rodriguez H, et al. Gene conversion in the CYP11B2 gene encoding P450c11AS is associated with, but does not cause, the syndrome of corticosterone methyloxidase II deficiency. J Clin Endocrinol Metab 1996; 81: 321 - 326.

    Article  PubMed  CAS  Google Scholar 

  38. Curnow KM, IV. ulatero P, Emeric-Blanchouin N, Aupetit-Faisant B, Corvol P, Pascoe L. The amino acid substitutions Ser288Gly and Va1320Ala convert the cortisol producing enzyme, CYP11B1, into an aldosterone producing enzyme. Nat Struct Biol 1997; 4:32-35.

    Google Scholar 

Download references

Authors
  1. Michael Peter
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Wolfgang G. Sippell
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Department of Clinical Chemistry, University of Crete School of Medicine, Heraklion, Crete, Greece

    Andrew N. Margioris MD

  2. Pediatric and Reproductive Endocrinology Branch, National Institute of Child and Human Development, National Institute of Health, Bethesda, MD, USA

    George P. Chrousos MD

Rights and permissions

Reprints and permissions

Copyright information

© 2001 Springer Science+Business Media New York

About this chapter

Cite this chapter

Peter, M., Sippell, W.G. (2001). Aldosterone Synthase Deficiency. In: Margioris, A.N., Chrousos, G.P. (eds) Adrenal Disorders. Contemporary Endocrinology. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-101-5_26

Download citation

  • DOI: https://doi.org/10.1007/978-1-59259-101-5_26

  • Publisher Name: Humana Press, Totowa, NJ

  • Print ISBN: 978-1-61737-029-8

  • Online ISBN: 978-1-59259-101-5

  • eBook Packages: Springer Book Archive

Publish with us

Policies and ethics

Search

Navigation