Skip to main content
SpringerLink
Log in

11β-hydroxylase deficiency

  • Views
  • Facts, perspectives and opinions on selected topics
  • Published:
Journal of Endocrinological Investigation Aims and scope Submit manuscript

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

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

References

  1. Shepard T.H. II, Clausen S.W. Case of adrenogenital syndrome with hypertensiontreated with cortisone. Pediatrics 8: 805, 1951.

    CAS  PubMed  Google Scholar 

  2. Eberlein W.R., Bongiovanni A.M. Congenital adrenal hyperplasia with hypertension: unusual steroid pattern in blood and urine. J. Clin. Endocrinol. Metab. 15: 1531, 1955.

    Article  CAS  PubMed  Google Scholar 

  3. Rosier A., Leiberman E., Cohen T. High frequency of congenital adrenal hyperplasia (classic 11-beta-hydroxylase deficiency) among Jews from Morocco. Am. J. Med. Genet. 42: 827, 1992.

    Article  Google Scholar 

  4. Zachmann M., Tassinari D., Prader A. Clinical and biochemical variability of congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. A study of 25 patients. J. Clin. Endocrinol. Metab. 56: 222, 1983.

    Article  CAS  Google Scholar 

  5. Liel Y. Acute adrenal crisis complicating hypertensive congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Clin. Genet. 43: 92, 1993.

    Article  CAS  PubMed  Google Scholar 

  6. Hochberg Z., Schechter J., Benderly A., Leiberman E., Rosier A. Growth and pubertal development in patients with congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency. Am. J. Dis. Child. 139: 771, 1985.

    CAS  PubMed  Google Scholar 

  7. Azziz R., Boots L.R., Parker Jr C.R., Bradley Jr E., Zacur H.A. 11-beta-hydroxylase deficiency in hyperandrogenism. Fertil. Steril. 55: 753, 1991.

    Google Scholar 

  8. Nelson D.R., Kamataki T., Waxman D.J., Guengerich F.P., Estabrook R.W., Feyereisen R., Gonzalez F.J., Coon M.J., Gunsalus I.C., Gotoh O., Okuda K., Nebert D.W. The P450 superfamily: update on new sequences, gene mapping, accession numbers, early trivial names of enzymes, and nomenclature. DNA Cell. Biol. 12: 1, 1993

    Article  CAS  PubMed  Google Scholar 

  9. Mantero F., Scaroni C., Opocher G. and Carpene G. Hypertension due to adrenal enzymatic defects. In: Takeda R., Miyamori I. (Eds.). Controversies in disorders of adrenal hormones. Excerpta Medica, Amsterdam, New York, Oxford, 1988, p. 147.

    Google Scholar 

  10. Pang S., Levine L.S., Lorenzen F., Chow D., Pollack M., Dupont B., Genel M., New M.I. Hormonal studies in obligate heterozygotes and siblings of patients with 11-beta-hydroxylase deficiency congenital adrenal hyperplasia. J. Clin. Endocrinol. Metab. 50: 586, 1980.

    Article  CAS  PubMed  Google Scholar 

  11. Mornet E., Dupont J., Vitek A., White P.C. Characterization of two genes encoding human steroid 11-beta-hydroxylase (P-450 (11) beta). J. Biol. Chem. 264: 20961, 1989.

    CAS  PubMed  Google Scholar 

  12. Wagner M.J., Ge Y., Siciliano M., Wells D.E. A hybrid cell mapping panel for regional localization of probes to human chromosome 8. Genomics 10: 114, 1991.

    Article  CAS  PubMed  Google Scholar 

  13. White P.C., Dupont J., New M.I., Leiberman E., Hochberg Z., Rosier A. A mutation in CYP11B1 (arg-448—>His) associated with steroid 11-beta-hydroxylase deficiency in Jews of Moroccan origin. J. Clin. Invest. 87: 1664, 1991.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  14. Curnow K.M., Slutsker L., Vitek J., Cole T., Speiser P.W., New M.I., White P.C., Pascoe L. Mutations in the CYP11B1 gene causing congenital adrenal hyperplasia and hypertension cluster in exons 6,7, and 8. Proc Natl Acad Sci USA 90: 4552, 1993.

    Article  CAS  PubMed Central  PubMed  Google Scholar 

  15. Helmberg A., Ausserer B., Kofier R. Frame shift by insertion of 2 basepairs in codon 394 of CYP11B1 causes congenital adrenal hyperplasia due to steroid 11-beta-hydroxylase deficiency. J. Clin. Endocrinol. Metab. 75: 1278, 1992.

    CAS  PubMed  Google Scholar 

  16. Cooper D.N., Youssoufian H. The CpG dinucleotide and human genetic disease. Hum. Genet. 78: 151, 1988.

    Article  CAS  PubMed  Google Scholar 

  17. Skinner C.A. and Rumsby G. Steroid 11-beta-hydroxylase deficiency caused by a five pair duplication in the CYP11B1 gene. Hum. Molecular Genet. 3: 2, 377, 1994.

    Google Scholar 

  18. Jöhrer K., Geley S., Kapelari K., White P.C., Kofier R. CYP11B1 mutations causing classic or non-classic congenital adrenal hyperplasia. IX International Congress on Hormonal Steroids, September 24, 1994 (Abstract).

  19. Nadler J.L., Hsueh W., Horton R. Therapeutic effect of calcium channel blockade in primary aldosteronism. J. Clin. Endocrinol. Metab. 60: 896, 1985.

    Article  CAS  PubMed  Google Scholar 

  20. Baker S.W. Psychological management of intersex children. Pediatr. Adolesc. Endocrinol. 8: 261, 1981.

    Google Scholar 

  21. Rosier A., Weshler N., Leiberman E., Hochberg Z., Weidenfeld J., Sack J., Chemke J. 11-beta-hydroxylase deficiency congenital adrenal hyperplasia:update of prenatal diagnosis. J. Clin. Endocrinol. Metab. 66: 830, 1988.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Division of Endocrinology, Departement of internal Medicine, University of Ancona, Ospedale regionale Torrette, 60020, Ancona, Italy

    F. Mantero & S. Filipponi

  2. Institute of Semeiotica Medica, University of Padova, Padova, Italy

    G. Opocher & D. Armanini

Authors
  1. F. Mantero
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. G. Opocher
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. D. Armanini
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. S. Filipponi
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

About this article

Cite this article

Mantero, F., Opocher, G., Armanini, D. et al. 11β-hydroxylase deficiency. J Endocrinol Invest 18, 545–549 (1995). https://doi.org/10.1007/BF03349766

Download citation

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/BF03349766

Key-words

Search

Navigation